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TFmiR2
Constructing and analyzing disease-, tissue- and process-specific transcription factor and miRNA co-regulatory networks
v2.0
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Step 1: Input selection
Load example data
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miRNA
None
mRNA
None
Step 2: Configuration
miRNA-target enrichment p-value threshold
Species
Human
Mouse
ORA p-value threshold
Related disease
No disease
Adenocarcinoma
Amyotrophic Lateral Sclerosis
Down Syndrome
Glioblastoma
Hepatomegaly
Schizophrenia
Alzheimer's Disease
Amyloidosis
Anemia, Hemolytic
Rheumatoid Arthritis
Asthma
Astrocytoma
Malignant neoplasm of breast
Malignant tumor of colon
Colonic Neoplasms
Cystic Fibrosis
Presenile dementia
Mental Depression
Depressive disorder
Diabetes
Diabetes Mellitus
Membranous glomerulonephritis
Hepatolenticular Degeneration
Angioedemas, Hereditary
Keratoconus
Keratosis Follicularis
Kidney Failure, Acute
liposarcoma
Liver Cirrhosis
Liver Cirrhosis, Experimental
Liver neoplasms
Lung diseases
Chronic Obstructive Airway Disease
Lung Neoplasms
melanoma
Multiple Sclerosis
Myocardial Infarction
Nasal Polyps
Neoplasm Metastasis
Nephrotic Syndrome
Obesity
Degenerative polyarthritis
Other specified peritonitis
Pancreatitis
Prostatic Neoplasms
Pulmonary Emphysema
Cerebrovascular accident
Thromboembolism
Trypanosomiasis
Urinary Incontinence
Cerebral Amyloid Angiopathy
Deep Vein Thrombosis
Secondary malignant neoplasm of bone
Hepatocellular Adenoma
Diastrophic dysplasia
alpha 1-Antitrypsin Deficiency
Embolism, Paradoxical
Fibrosis, Liver
Hypoalbuminemia
Malignant neoplasm of lung
Familial lichen amyloidosis
Familial Alzheimer Disease (FAD)
Adult Hepatocellular Carcinoma
Senile Plaques
Argyrophilic grain disease
Malignant neoplasm of prostate
Thrombophilia
Alzheimer Disease, Late Onset
Overweight
Neurodegenerative Disorders
Acute Confusional Senile Dementia
Prostate carcinoma
Lung Diseases, Obstructive
Toxic Shock Syndrome
Breast Carcinoma
Chronic lung disease
Alzheimer's Disease, Focal Onset
Alzheimer Disease, Early Onset
Lewy Body Disease
Chronic graft-versus-host disease
Ischemic stroke
Hepatic Form of Wilson Disease
Acute Kidney Insufficiency
Benign Prostatic Hyperplasia
AURAL ATRESIA, CONGENITAL
Liver carcinoma
Acute kidney injury
Plaque, Amyloid
Prostatic Hyperplasia
alpha-2-Macroglobulin Deficiency
alpha-1-Antitrypsin Deficiency, Autosomal Recessive
Congenital Abnormality
Adenoma
Alcoholic Intoxication, Chronic
Autosome Abnormalities
Malignant neoplasm of urinary bladder
Bladder Neoplasm
Malignant Neoplasms
Candidiasis
Squamous cell carcinoma
Chromosome Aberrations
Congenital chromosomal disease
Ulcerative Colitis
Colorectal Carcinoma
Colorectal Neoplasms
Drug toxicity
Hepatitis B
Inflammation
Laryngeal neoplasm
leukemia
Chronic Lymphocytic Leukemia
Acute lymphocytic leukemia
Acute Promyelocytic Leukemia
Lupus Erythematosus, Systemic
Lymphoma
Lymphoma, Follicular
Lymphoma, Non-Hodgkin
Malignant neoplasm of stomach
Multiple Myeloma
Neoplasms
Neuroblastoma
Dermatitis, Occupational
Adenomatous Polyposis Coli
polyps
Psoriasis
Adverse reaction to drug
T-Cell Lymphoma
Spina Bifida
Industrial Dermatosis
Benign Neoplasm
Malignant neoplasm of mouth
Cholangiocarcinoma
Lip and Oral Cavity Carcinoma
Congenital defects
Pancreatic carcinoma
Carcinoma of Male Breast
Malignant neoplasm of male breast
Asthma, Occupational
Gastric Adenocarcinoma
Adenocarcinoma of pancreas
Hyperplastic Polyp
Adenocarcinoma of colon
Malignant neoplasm of pancreas
Malignant neoplasm of esophagus
Carcinogenesis
Leukemogenesis
Carcinoma of lung
Colon Carcinoma
Stomach Carcinoma
Carcinoma of bladder
Central neuroblastoma
early pregnancy
Malignant Squamous Cell Neoplasm
Environment-Related Malignant Neoplasm
Polyp of large intestine
Squamous cell carcinoma of the head and neck
Adenoma of large intestine
Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma
Primary malignant neoplasm of lung
Adenocarcinoma of large intestine
Mammary Neoplasms
Colorectal Cancer
Slow acetylator due to N-acetyltransferase enzyme variant
Fast acetylator due to N-acetyltransferase enzyme variant
Laryngeal cleft
Orofacial cleft
Allergic disposition
Luminal A Breast Carcinoma
Allergic sensitization
Childhood Neuroblastoma
Acquired Immunodeficiency Syndrome
Anemia
Refractory anemias
Behcet Syndrome
Brain Neoplasms
Female Breast Carcinoma
Malignant neoplasm of larynx
Rectal Carcinoma
Malignant neoplasm of thyroid
Non-Small Cell Lung Carcinoma
Renal Cell Carcinoma
Malignant tumor of cervix
Cholelithiasis
Cleft upper lip
Coronary Arteriosclerosis
Crohn Disease
Senile dementia
Dementia, Vascular
Dermatitis, Atopic
Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent
Diabetic Nephropathy
Diastematomyelia
Drug Allergy
Endometriosis
Epilepsy
Esophageal Neoplasms
Exanthema
Breast Fibrocystic Disease
gallbladder neoplasm
Gilbert Disease (disorder)
Gingival Diseases
Glioma
Head and Neck Neoplasms
Hepatitis
Hepatitis A
Hepatitis, Toxic
HIV Infections
Huntington Disease
Hypertensive disease
Male infertility
Inflammatory Bowel Diseases
Kidney Failure, Chronic
Childhood Acute Lymphoblastic Leukemia
Leukemia, Lymphocytic, Acute, L2
Leukemia, Myelocytic, Acute
Myeloid Leukemia
Leukopenia
Leukoplakia, Oral
Liver Cirrhosis, Alcoholic
Liver diseases
Meningioma
Mouth Neoplasms
Myopathy
Neural Tube Defects
Neurenteric Cyst
Osteopenia
Ovarian Carcinoma
Pancreatic Neoplasm
Parkinson Disease
Periodontal Diseases
Pre-Eclampsia
Rectal Neoplasms
Systemic Scleroderma
Stomach Neoplasms
Thyroid Neoplasm
Tuberculosis
Tuberculosis, Pulmonary
Virus Diseases
B-Cell Lymphomas
Diffuse Large B-Cell Lymphoma
Tethered Cord Syndrome
Peripheral Vascular Diseases
Encephalopathies
Idiopathic Membranous Glomerulonephritis
Adenocarcinoma of lung (disorder)
Esophageal carcinoma
Iniencephaly
Craniorachischisis
Malignant neoplasm of oropharynx
Malignant neoplasm of gallbladder
Allergic asthma
Mitochondrial Myopathies
Dermatitis, Allergic Contact
Tumor Progression
Triglycerides measurement
Adenomatous Polyps
Carcinoma, Large Cell
Adult Brain Neoplasm
Chronic berylliosis
Malignant neoplasm of female breast
Gallbladder Carcinoma
Medullary carcinoma of thyroid
Age related macular degeneration
Exencephaly
Chronic Periodontitis
Malignant Head and Neck Neoplasm
Squamous cell carcinoma of esophagus
Transitional cell carcinoma of bladder
Solid Neoplasm
Squamous cell carcinoma of oropharynx
Laryngeal Squamous Cell Carcinoma
Cervix carcinoma
Chronic liver disease
Spinal Cord Myelodysplasia
Malignant neoplasm of liver
Malignant mesothelioma
Pancreatitis, Alcoholic
Dementia
Thyroid carcinoma
Oropharyngeal disorders
Carcinoma of larynx
Epithelial ovarian cancer
Acrania
Premenopausal breast cancer
Cleft Lip with or without Cleft Palate
Malignant Pleural Mesothelioma
Drug-Induced Liver Disease
Cardiomyopathies
Malignant neoplasm of ovary
Mammary Neoplasms, Human
Hepatitis, Drug-Induced
Asbestos-Related Malignant Mesothelioma
Hereditary Nonpolyposis Colorectal Cancer
Differentiated Thyroid Gland Carcinoma
hearing impairment
Vascular lesions
Serum total cholesterol measurement
Hepatocarcinogenesis
Renal Insufficiency
Glioblastoma Multiforme
Peripheral Arterial Diseases
Meningioma, benign, no ICD-O subtype
Cleft lip, isolated
Coronary Artery Disease
Precursor Cell Lymphoblastic Leukemia Lymphoma
Chronic kidney disease stage 5
Oropharyngeal Carcinoma
Drug Hypersensitivity Syndrome
Luminal B Breast Carcinoma
Drug-Induced Acute Liver Injury
Leukemia in children
Head and Neck Carcinoma
Early Rheumatoid Arthritis
cervical cancer
Infant Leukemia
Young onset Parkinson disease
Chemical and Drug Induced Liver Injury
Chemically-Induced Liver Toxicity
Anaplasia
Blood Coagulation Disorders
Intracranial Aneurysm
Cerebrovascular Disorders
Cholera
Diabetic Retinopathy
Heart failure
Congestive heart failure
Hepatitis C
Lipoidosis
Machado-Joseph Disease
Malaria
Prostatic Diseases
Pseudotumor Cerebri
Psychotic Disorders
Retinal Diseases
Shy-Drager Syndrome
Subarachnoid Hemorrhage
Trisomy
Vascular Diseases
Vasculitis
Pertussis
Whooping cough due to unspecified organism
Pancreatitis, Chronic
Cholinergic urticaria
Acute myocardial infarction
Prion Diseases
Low density lipoprotein cholesterol measurement
Urticaria due to cold
Adult Glioblastoma
Childhood Glioblastoma
Malignant Fibrous Histiocytoma
Impaired cognition
Nonorganic psychosis
Chronic active hepatitis
Recurrent tumor
invasive cancer
Inclusion Body Myopathy, Sporadic
ovarian neoplasm
Tauopathies
AMYOTROPHIC LATERAL SCLEROSIS 1
Amyotrophic Lateral Sclerosis, Sporadic
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis
Cerebral Hemorrhage
Decreased Concentration
Hemoglobinopathies
Infant, Premature
Myelodysplasia
Rhabdomyosarcoma
Gilles de la Tourette syndrome
Hyperactive behavior
Sarcoma
MYELODYSPLASTIC SYNDROME
Grade 3 Colon Adenocarcinoma
Depression, Bipolar
Retinoblastoma
Unipolar Depression
Reticulocyte count (procedure)
Malignant neoplasm of large intestine
Delayed Sleep Phase Syndrome
Nonorganic Sleep Wake Cycle Disorders
Advanced Sleep Phase Syndrome
Non-24 Hour Sleep-Wake Disorder
Shift-Work Sleep Disorder
Sleep Disorders, Circadian Rhythm
Major Depressive Disorder
Primary malignant neoplasm
Autism Spectrum Disorders
Ataxia
Ataxias, Hereditary
Blepharospasm
Cerebellar Ataxia
Charcot-Marie-Tooth Disease
Chorea
Fetal Growth Retardation
Sensorineural Hearing Loss (disorder)
Hip Dislocation
Infant, Small for Gestational Age
Microcephaly
Muscle Spasticity
Nystagmus
Peripheral Neuropathy
Foot-drop
Degenerative brain disorder
Failure to gain weight
Absent reflex
Muscle degeneration
Peripheral motor neuropathy
Cerebral atrophy
Reflex, Deep Tendon, Absent
Hereditary Motor and Sensory-Neuropathy Type II
Axonal neuropathy
Neurogenic Muscular Atrophy
Absent tendon reflex
Short stature
Small head
Distal muscle weakness
Neuropathy
Skeletal muscle atrophy
Epileptic encephalopathy
Hypomyelination
Global developmental delay
Congenital pes cavus
Idiopathic Inflammatory Myopathies
Hammer Toe
Peripheral axonal neuropathy
Intrauterine retardation
Cardiac fibrosis
Neurogenic muscle atrophy, especially in the lower limbs
Distal sensory impairment
Generalized hypotonia
Decreased motor nerve conduction velocity
Distal limb muscle weakness due to peripheral neuropathy
Cognitive delay
Foot dorsiflexor weakness
Pediatric failure to thrive
Charcot-Marie-Tooth Disease, Axonal, Type 2n
Mitochondrial cardiomyopathy
Intellectual Disability
Choreatic disease
Supratentorial atrophy
Mental and motor retardation
CNS hypomyelination
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
Undergrowth
CNS disorder
Hemophilia B
Muscular Dystrophy, Duchenne
Fanconi Anemia
Glaucoma
Chronic granulomatous disease
Hemophilia A
Herpes Simplex Infections
Homocystinuria
Late-Infantile Neuronal Ceroid Lipfuscinosis
Myeloid Leukemia, Chronic
Mucopolysaccharidoses
nervous system disorder
Neuralgia
Retinitis Pigmentosa
Sandhoff Disease
Teratoma
Citrullinemia
Ornithine carbamoyltransferase deficiency
Impaired glucose tolerance
Hemoglobin Bart's hydrops syndrome
Mastitis-metritis-agalactia syndrome
Arrhythmogenic Right Ventricular Dysplasia
Hemophilia, NOS
Muscular Dystrophies, Limb-Girdle
Myxoid cyst
IMMUNE SUPPRESSION
Granulomatous Disease, Chronic, X-Linked
Alpha-Sarcoglycanopathies
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
Amnesia
Autistic Disorder
Gastroesophageal reflux disease
Heroin Dependence
Ischemia
Jacksonian Seizure
Lethargy
Leukodystrophy
Flaccid Muscle Tone
Muscle hypotonia
Psychomotor Disorders
Reflex, Abnormal
Seizures
Status Epilepticus
Complex partial seizures
Reflex, Corneal, Decreased
Hyporeflexia
Hyperreflexia
Agenesis of corpus callosum
Generalized seizures
Seizures, Clonic
Reflex, Gag, Absent
High pitched cry
Tall stature
Cerebellar Hypoplasia
Visual seizure
Tonic Seizures
Epileptic drop attack
Epilepsy, Reflex
Hoffman's Reflex
Reflex, Pendular
Reflex, Corneal, Absent
Gamma aminobutyric acid transaminase deficiency
Seizures, Somatosensory
Seizures, Auditory
Olfactory seizure
Gustatory seizure
Vertiginous seizure
Downward slant of palpebral fissure
Floppy Muscles
Muscle Tone Atonic
Tonic - clonic seizures
Reflex, Acoustic, Abnormal
Mood Disorders
Reflex, Ankle, Absent
Reflex, Triceps, Absent
Reflex, Biceps, Absent
Reflex, Anal, Absent
Psychomotor Impairment
Abnormal Deep Tendon Reflex
Non-epileptic convulsion
Single Seizure
Atonic Absence Seizures
Unilateral Hypotonia
Developmental Psychomotor Disorders
Bulbocavernosus Reflex, Decreased
Bulbocavernousus Reflex Absent
Palmo-Mental Reflex
Reflex, Anal, Decreased
Reflex, Ankle, Abnormal
Reflex, Ankle, Decreased
Reflex, Biceps, Abnormal
Reflex, Biceps, Decreased
Reflex, Gag, Decreased
Reflex, Knee, Abnormal
Reflex, Knee, Decreased
Reflex, Moro, Asymmetric
Reflex, Triceps, Abnormal
Reflex, Triceps, Decreased
Convulsive Seizures
Seizures, Focal
Seizures, Sensory
Mitochondrial Diseases
Calcification of coronary artery
Severe muscular hypotonia
Death in childhood
Posterior fossa cyst
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
Neonatal Hypotonia
Retrognathia
Nonepileptic Seizures
Convulsions
Absence Seizures
Epileptic Seizures
Myoclonic Seizures
Generalized Absence Seizures
Abdominal Pain
Arteriosclerosis
Atherosclerosis
Bipolar Disorder
Cardiovascular Diseases
Cerebral Infarction
Primary biliary cirrhosis
Cholesterol Ester Storage Disease
Cognition Disorders
Corneal Opacity
Coronary heart disease
Dermatitis
Eclampsia
Ectropion
Fatty Liver
Fatty Liver, Alcoholic
Fibrosarcoma
Primary angle-closure glaucoma
Glycogen Storage Disease Type I
Gout
Heart Diseases
Hepatosplenomegaly
Hypercholesterolemia
Hypercholesterolemia, Familial
Hyperinsulinism
Hyperlipidemia
Hyperlipoproteinemias
Hypertriglyceridemia
Influenza
Kidney Diseases
Lecithin Acyltransferase Deficiency
Lymphoproliferative Disorders
Malaria, Cerebral
Marijuana Abuse
Mental Retardation
Mesothelioma
Metabolic Diseases
Myeloproliferative disease
Nephroblastoma
Niemann-Pick Diseases
Severe mental retardation (I.Q. 20-34)
Splenomegaly
Syringomyelia
Tangier Disease
Thrombocytopenia
Low Vision
Wolman Disease
Xanthomatosis
Antiphospholipid Syndrome
Addictive Behavior
Left Ventricular Hypertrophy
Decreased circulating high-density lipoprotein levels
Hypocholesterolemia
Myocardial Ischemia
Dry skin
Lipid Metabolism Disorders
Atherosclerosis of aorta
Hemoglobin low
Malnutrition
Aortic Aneurysm, Abdominal
Smith-Lemli-Opitz Syndrome
Hepatoblastoma
Metastatic malignant neoplasm to brain
Niemann-Pick Disease, Type C
Dystrophia unguium
Abdominal discomfort
Memory impairment
Coronary Stenosis
Dyslipidemias
Xerosis
Coinfection
Rhinovirus infection
Xanthoma
Glaucoma, Primary Open Angle
Apolipoprotein A-I deficiency
Blurred vision
Disseminated Malignant Neoplasm
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Hemiplegia/hemiparesis
High density lipoprotein measurement
Non-alcoholic Fatty Liver Disease
Primary antiphospholipid syndrome
Corneal stromal opacities
Serum triglycerides raised
Hypoalphalipoproteinemias
Electromyogram abnormal
Lymphadenopathy
Clouding of corneal stroma
Lipids measurement
Metabolic Syndrome X
Carotid Atherosclerosis
Osteosarcoma of bone
Hashimoto Disease
Gastrointestinal pain
Decreased tendon reflex
Hyperlipoproteinemia Type IIa
Memory Loss
Tangier Disease Neuropathy
Endothelial dysfunction
Peripheral demyelination
Vascular inflammations
Genetic Diseases, Inborn
Drusen
Mild cognitive disorder
Metastasis from malignant tumor of prostate
Chronic myeloproliferative disorder
alpha^+^ Thalassemia
Tumor-Associated Vasculature
Geographic Atrophy
Atherogenesis
Hyperlipoproteinemia Type IIb
Hypoalphalipoproteinemia, Familial
Nail dysplasia
Facial diplegia
Impaired pain sensation
Distal amyotrophy
Accelerated atherosclerosis
Cloudy cornea
Chronic noninfectious lymphadenopathy
Progressive peripheral neuropathy
ATRICHIA WITH PAPULAR LESIONS
PITUITARY ADENOMA PREDISPOSITION (disorder)
Premature coronary artery disease
exudative macular degeneration
Allergic rhinitis (disorder)
Extramedullary Hematopoiesis (disorder)
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 13
Steatohepatitis
Nasopharyngeal carcinoma
Familial HDL deficiency
High density lipoprotein deficiency
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2
Juvenile arthritis
response to statin
Placental Malformation
Visual Impairment
Neutrophilia (disorder)
Hdl Deficiency, Type 2
Pneumonitis
Juvenile rheumatoid arthritis
Impaired temperature sensation
Abnormality of the liver
Physical Activity Measurement
Accelerated plaque build-up in arteries
Orange discoloured tonsils
Small cell carcinoma of lung
Malignant neoplasm of brain
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Low grade glioma
Apnea
Bronchiectasis
Bronchopulmonary Dysplasia
Clubbed Fingers
Coughing
Dyspnea
Pathological accumulation of air in tissues
Heartburn
Hyaline Membrane Disease
Pulmonary Hypertension
Ichthyoses
Congenital ichthyosis
Leishmaniasis, Cutaneous
Persistent Fetal Circulation Syndrome
Pneumonia
Pseudoxanthoma Elasticum
Pulmonary Alveolar Proteinosis
Pulmonary Fibrosis
Rales
Respiration Disorders
Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Adult
Respiratory Tract Diseases
Hamman-Rich syndrome
Pneumonia, Interstitial
Lung Diseases, Interstitial
Childhood Acute Myeloid Leukemia
Dyspnea on exertion
Tachypnea
Desquamative interstitial pneumonia
Honeycomb lung
Respiratory distress
RR interval
Neonatal respiratory failure
Chronic interstitial lung disease
Respiratory Distress Syndrome
Respiratory Failure
Idiopathic Pulmonary Fibrosis
Lamellar ichthyosis, type 2
Abnormality of the cornea
Cataract microcornea syndrome
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neuroendocrine cell hyperplasia of infancy
Congenital Deficiency of Pulmonary Surfactant Protein B
Multiple Chronic Conditions
Interstitial lung fibrosis
Acid reflux
Ground-glass opacification on pulmonary HRCT
Reticular pattern on pulmonary HRCT
Sideroblastic anemia
Clonus
Cytopenia
Dysarthria
Movement Disorders
Babinski Reflex
Speech Disorders
Chagas Disease
Congenital anemia
Hereditary sideroblastic anemia
Cerebellar Dysmetria
Action Tremor
Dysdiadochokinesis
Ataxia, Sensory
Microcytic hypochromic anemia (disorder)
Ataxia, Motor
Iron Overload
Ataxia, Truncal
Abnormal coordination
Ataxia, Appendicular
Tremor, Rubral
Congenital cerebellar ataxia
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
Nonprogressive cerebellar ataxia
Terminal tremor
Abnormality of metabolism/homeostasis
Graves Disease
Hypersensitivity
Immune System Diseases
Lobar Pneumonia
Disease Exacerbation
Thyroid associated opthalmopathies
Experimental Lung Inflammation
Allergic Reaction
Brain Diseases
Choroid Diseases
Cleft Palate
Color vision defect
Disorder of eye
Gonorrhea
Hamartoma
Conductive hearing loss
Herpes NOS
Hyperglycemia
Hypogonadism
Macular degeneration
Muscular Dystrophy
Night Blindness
Ophthalmoplegia
Optic Atrophy
Toxoplasmosis, Congenital
Tuberous Sclerosis
Photophobia
Cataract
Scotoma, Central
Hereditary retinal dystrophy
Adrenoleukodystrophy
Cystadenocarcinoma, Serous
gliosarcoma
Abnormal color vision
Reduced visual acuity
Visual field constriction
Retinal damage
Harlequin Fetus
Microdontia (disorder)
Neurocutaneous Syndromes
Congenital anomaly of testis
Congenital hypoplasia of penis
Stargardt's disease
Blindness, Legal
Congenital infectious disease
Superficial ulcer
Hereditary macular dystrophy
Autosomal recessive retinitis pigmentosa
Leber Congenital Amaurosis
Night blindness, congenital stationary
Hematologic Neoplasms
Low intelligence
Blindness
Electroretinogram abnormal
Atrophic retina
Abnormal visual evoked potential
Pallor of optic disc
Cone dystrophy
Macular dystrophy
North Carolina macular dystrophy
Chloroquine retinopathy
Disorder of macula of retina
Retinal Dystrophies
Cholesterol gallstones
Retinal toxicity
Optic Atrophy, Hereditary, Leber
Mental deficiency
Cholecystolithiasis
Degenerative disorder
Hereditary Malignant Neoplasm
Lens Opacities
Retinal pigment epithelium atrophy
Retinal pigment epithelial abnormality
Extensively Drug-Resistant Tuberculosis
Bone spicule pigmentation of the retina
Macular pigmentary changes
Cleft palate, isolated
Stargardt disease 3
Broad flat nasal bridge
Anteverted nostril
Retinal pigment epithelial atrophy
Poor school performance
Paroxysmal involuntary eye movements
USHER SYNDROME, TYPE IB (disorder)
Nasal bridge wide
Mandibulofacial Dysostosis with Mental Deficiency
STARGARDT DISEASE 1 (disorder)
Retinal pigment epithelial mottling
Retinal Dystrophy, Early Onset Severe
CONE-ROD DYSTROPHY 3 (disorder)
Abnormality of retinal pigmentation
Stargardt disease 4
RETINITIS PIGMENTOSA 19
Photoreceptor degeneration
Uranostaphyloschisis
Attenuation of retinal blood vessels
Macular Degeneration, Age-Related, 2
Retinal thinning
Color vision defect, severe
Unspecified visual loss
Abnormal vision
Infection
Dull intelligence
Difficulties with night vision
Photodysphoria
Retinitis pigmentosa inversa
Atypical scarring of skin
Retinal astrocytic hamartoma
Aplasia/Hypoplasia of the macula
Abnormality of the retinal vasculature
Abnormality of macular pigmentation
Progressive night blindness
Abnormality of the choroid
Abnormality of the fovea
Chorioretinal atrophy
Yellow/white lesions of the macula
Cone-Rod Dystrophies
Loss in color vision
Blind spot located at fixation point
Juvenile macular degeneration
Abetalipoproteinemia
Primary Myelofibrosis
Bacterial Infections
Blast Phase
Bone Diseases, Developmental
Burkitt Lymphoma
Cerebral Palsy
Diarrhea
Diphtheria
Eosinophilia
Failure to Thrive
Fatigue
Fever
Gastritis
Congenital Heart Defects
Hematological Disease
Immunologic Deficiency Syndromes
Kidney Neoplasm
Acute Erythroblastic Leukemia
Lymphoid leukemia
Acute Megakaryocytic Leukemias
Acute biphenotypic leukemia
Leukemia, Myeloid, Accelerated Phase
Leukemia, Myeloid, Chronic-Phase
Leukemia, Myelomonocytic, Chronic
Chronic Neutrophilic Leukemia
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Adult T-Cell Lymphoma/Leukemia
Leukocytosis
Leukoencephalopathy, Progressive Multifocal
Monosomy
Myelofibrosis
Nail-Patella Syndrome
Neoplasms, Experimental
Osteosclerosis
Other ureteric obstruction
Plasmacytoma
Polycythemia
Polycythemia Vera
Precancerous Conditions
Retroviridae Infections
Rubella
Sezary Syndrome
Thrombocythemia, Essential
Thymoma
Werner Syndrome
Sweet Syndrome
Severe Combined Immunodeficiency
Acute leukemia
Monocytosis
Congenital musculoskeletal anomalies
Congenital heart disease
Granulocytic Sarcoma
Adenocarcinoma, Basal Cell
Adenocarcinoma, Oxyphilic
Carcinoma, Cribriform
Carcinoma, Granular Cell
Adenocarcinoma, Tubular
Idiopathic Hypereosinophilic Syndrome
Eosinophilic leukemia
Decrease in appetite
Gastrointestinal Stromal Tumors
Papillary thyroid carcinoma
Parkinsonian Disorders
Neoplasm, Residual
Mucosa-Associated Lymphoid Tissue Lymphoma
Carcinoma breast stage IV
Recurrent Childhood Acute Lymphoblastic Leukemia
relapsing chronic myelogenous leukemia
Philadelphia chromosome positive chronic myelogenous leukemia
Philadelphia chromosome negative chronic myelogenous leukemia
Adult T Acute Lymphoblastic Leukemia
Adult B Acute Lymphoblastic Leukemia
Adenocarcinoma Of Esophagus
Acute Undifferentiated Leukemia
stage, chronic myelogenous leukemia
secondary acute myeloid leukemia
Condition, Preneoplastic
Frontotemporal dementia
Large cell carcinoma of lung
Chronic eosinophilic leukemia
Pre B-cell acute lymphoblastic leukemia
Juvenile Myelomonocytic Leukemia
Hematopoietic Neoplasms
Decreased platelet count
Hereditary hemochromatosis
Amegakaryocytic thrombocytopenia
Symmetrical dyschromatosis of extremities
Overlap syndrome
Chromosome 8, trisomy
Enteropathy-Associated T-Cell Lymphoma
Progressive Neoplastic Disease
Refractory cancer
Adult Acute Lymphocytic Leukemia
Thrombocytosis
Leukemia secondary
Increased number of platelets
Leukaemia recurrent
Chronic leukemia (category)
Granulocytosis
Precursor T-cell lymphoblastic lymphoma
Precursor B-cell lymphoblastic leukemia
Chronic myelogenous leukemia, BCR/ABL positive
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Myelodysplastic-Myeloproliferative Diseases
Eosinophilic disorder
Childhood Chronic Myelogenous Leukemia, BCR-ABL1 Positive
Childhood Leukemia
Thymic Lymphoma
Pediatric Neoplasm
refractory CML
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
CML progression
Malformations of Cortical Development, Group II
Familial primary gastric lymphoma
Acute lymphoblastic leukemia with lymphomatous features
Trichohepatoenteric Syndrome
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
Neoplastic disease
Philadelphia chromosome-positive acute lymphoblastic leukemia
Loss of appetite (finding)
Leukemia, B-Cell
Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
T-Cell Prolymphocytic Leukemia
Promyelocytic leukemia
Mixed phenotype acute leukemia
Chronic myeloid leukemia, BCR/ABL-positive
Myeloid neoplasm
Progressive cGVHD
Triple Negative Breast Neoplasms
Pdgfra-Associated Chronic Eosinophilic Leukemia
LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
CHRONIC MYELOID LEUKEMIA, RESISTANT TO IMATINIB
Splanchnic vein thrombosis
Abnormality of skeletal morphology
Abnormality of basophils
Renal medullary carcinoma
Ph-Like Acute Lymphoblastic Leukemia
Malignancy
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
Food Allergy
Cardiomegaly
Klinefelter Syndrome
Rhinitis
Migraine Disorders
Clear Cell Sarcoma of Soft Tissue
Klinefelter's syndrome - male with more than two X chromosomes
Cardiac Hypertrophy
Azoospermia
Squamous cell carcinoma of lung
Mitochondrial Encephalomyopathies
Alpers Syndrome (disorder)
Pancreatic Ductal Adenocarcinoma
beta^+^ Thalassemia
Airway Obstruction
Anemia, Sickle Cell
Atrial Fibrillation
Autoimmune Diseases
Blood Group Incompatibility
Carcinoma, Transitional Cell
Choriocarcinoma
Coccidioidomycosis
Curling Ulcer
Cytomegalovirus Infections
Dengue Fever
Duodenal Ulcer
Erythroblastosis, Fetal
Gastritis, Atrophic
Glaucoma, Open-Angle
Graft-vs-Host Disease
Hemolytic-Uremic Syndrome
Hyperbilirubinemia
Neonatal Jaundice
Malaria, Falciparum
Multiple Endocrine Neoplasia Type 1
Meningococcal Infections
Obsessive-Compulsive Disorder
Peptic Ulcer
Platelet Count measurement
Pure Red-Cell Aplasia
Rheumatic Heart Disease
Sickle Cell Trait
Gastric ulcer
Stress, Psychological
Ulcer
Venous Thrombosis
Vitiligo
von Willebrand Disease
Vulvovaginitis
Wheezing
Essential Hypertension
Alcohol abuse
Liver Failure, Acute
Alkaline phosphatase measurement
Protein measurement
Waist-Hip Ratio
Angiomyolipoma
Neuroendocrine Tumors
Hemolytic reaction
Hereditary pancreatitis
Angiomyolipoma of kidney
Parasitemia
Recurrent urinary tract infection
Childhood asthma
Tricho-dento-osseous syndrome (disorder)
Acute gastroenteritis
Congenital glucose-galactose malabsorption
bilateral breast cancer
Erythrocyte Mean Corpuscular Hemoglobin Test
Nasal Type Extranodal NK/T-Cell Lymphoma
Mean corpuscular hemoglobin concentration determination
Hemoglobin measurement
Mean Corpuscular Volume (result)
Factor V Leiden mutation
Malignant neoplasm of gastrointestinal tract
Acute Cerebrovascular Accidents
Infection caused by Helicobacter pylori
Arteriopathic disease
Acute GVH disease
ABO incompatibility
Infectious disease of lung
Cerebral Ischemia
precancerous lesions
Acute Coronary Syndrome
Alloimmunisation
Invasive Ductal Breast Carcinoma
Coagulation factor measurement
Finding of Mean Corpuscular Hemoglobin
von Willebrand Disease, Type 1
Adult Lymphoma
Childhood Lymphoma
Sporadic Breast Carcinoma
Cardiomyopathy, Familial Idiopathic
Overweight and obesity
Tendinopathy
Distal Renal Tubular Acidosis
NEUROTICISM
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
Venous Thromboembolism
TARSAL-CARPAL COALITION SYNDROME
Cardiac Carcinoma
von Willebrand's factor (lab test)
Deficiency of glucose-6-phosphate dehydrogenase
GASTRIC CANCER, INTESTINAL
Diminished ovarian reserve
Neonatal Alloimmune Thrombocytopenia
Soluble Interleukin 6 Receptor Measurement
Medulloblastoma
Neuroectodermal Tumor, Primitive
Miller Dieker syndrome
Juvenile Pilocytic Astrocytoma
Anaplastic astrocytoma
Tumor Angiogenesis
Hereditary Diseases
Ketosis
Deficiency of acetyl-CoA acetyltransferase
Zellweger Spectrum
Anxiety
Anxiety Disorders
Cachexia
Celiac Disease
Patent ductus arteriosus
Gingivitis
Glycogen storage disease type II
Hypertrichosis
Left-Sided Heart Failure
Pain
Pemphigus Vulgaris
Pheochromocytoma
Precocious Puberty
Turner Syndrome
Ovarian Failure, Premature
Primary Sjögren's syndrome
Growth retardation
Adrenal Cortical Adenoma
Follicular thyroid carcinoma
Adrenocortical carcinoma
Heart Failure, Right-Sided
Alcohol or Other Drugs use
Acetyl-CoA: carboxylase deficiency
Aplasia Cutis Congenita
Triploidy syndrome
Growth delay
myeloblastosis
Corpus callosum agenesis neuronopathy
Beta thalassemia trait
Growth failure
Hospital acquired pneumonia
Atypical Teratoid Rhabdoid Tumor
Poor growth
Myocardial Failure
Heart Decompensation
aggressive cancer
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
Very poor growth
Adenoid Cystic Carcinoma
Insulin Resistance
Obesity, Morbid
Malignant neoplasm of salivary gland
Adenocarcinoma of salivary gland
Insulin Sensitivity
Hypertrophic Cardiomyopathy
Hypoglycemia
Vomiting
Long chain acyl-CoA dehydrogenase deficiency
Hyperammonemia
Muscular stiffness
Myalgia
Feeding difficulties
Liver and Intrahepatic Biliary Tract Carcinoma
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Acylcarnitines measurement
Generalized muscle weakness
Myasthenias
Carnitine deficiency
Exercise-induced myoglobinuria
Hepatocellular necrosis
Dicarboxylic aciduria
Exercise-induced myoglobinuria in adults
Mild expressive language delay
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency
Exercise-induced rhabdomyolysis
EMG: myopathic abnormalities
Elevated creatine kinase after exercise
Decreased activity of 3-hydroxyacyl-CoA dehydrogenase
Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Arthrogryposis
Cerebral Edema
Comatose
Rhabdomyolysis
Sudden infant death syndrome
Weight Gain
Liver Failure
Liver Dysfunction
Liver function tests abnormal finding
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Metabolic acidosis
Elevated liver enzymes
Indolent Systemic Mastocytosis
Glycinuria
Liver enzymes abnormal
Transaminases increased
Necrotizing Enterocolitis
HYPERGLYCINURIA (disorder)
Anaphylaxis (non medication)
Increased liver function tests
Brain Edema
Subclinical abnormal liver function tests
Elevated hepatic transaminases
Medium chain dicarboxylic aciduria
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2
Contracture
Contracture of joint
Language Delay
Prader-Willi Syndrome
Curvature of spine
Speech impairment
Speech Delay
Acyl-CoA dehydrogenase deficiency
Flexion contracture
Deficiency of butyryl-CoA dehydrogenase
Bell Palsy
Facial Paresis
Delayed speech and language development
Acquired scoliosis
Leukoaraiosis
Flexion contractures of joints
Neonatal onset
Facial muscle weakness of muscles innervated by CN VII
Episodic metabolic acidosis
Ethylmalonic aciduria
Feeding difficulties in infancy
Cortical white matter abnormalities seen on MRI
Exotropia
Hypothermia, natural
Generalized amyotrophy
Motor delay
2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-methylbutyrylglycinuria
Apneic episodes in infancy
No development of motor milestones
Anoxemia
Anoxia
Cardiac Arrest
Pericardial effusion
Protein Deficiency
Sudden Cardiac Death
Elevated creatine kinase
Muscle Weakness
Creatine phosphokinase serum increased
Hypoxia
Hypoxemia
Exercise-induced myalgia
Nonketotic hypoglycemia
Trifunctional Protein Deficiency With Myopathy And Neuropathy
Alopecia
Dehydration
Dry Eye Syndromes
Leptospirosis
Inborn Errors of Metabolism
Septicemia
Uterine Cancer
Aortic Aneurysm, Thoracic
Sepsis
Tyrosinemia, Type I
Hepatic methionine adenosyltransferase deficiency
Ketotic hypoglycemia
Conventional (Clear Cell) Renal Cell Carcinoma
Dryness of eye
Deficiency of acetyl-CoA acyltransferase (disorder)
Metastatic Prostate Carcinoma
Chromophobe Renal Cell Carcinoma
Epithelioma
Mammary Tumorigenesis
Pneumocystis jiroveci pneumonia
Episodic ketoacidosis
Clear-cell metastatic renal cell carcinoma
Nonalcoholic Steatohepatitis
Mammary adenocarcinoma
Hypermethioninemia
Cytosolic acetoacetyl-CoA thiolase deficiency
Chronic Kidney Diseases
Increased serum lactate
Increased serum pyruvate
Narcolepsy
Panic Disorder
Electrocardiogram: P-R interval
PR interval feature
PANIC DISORDER 1
response to ACE inhibitor
Brain Ischemia
Injuries, Acute Brain
Migraine with Aura
Lesion of brain
Brain Injuries
Brain Lacerations
Interstitial Cystitis
Brain Injuries, Focal
Chronic interstitial cystitis
Multiple Sclerosis, Primary Progressive
Progressive multiple sclerosis
Refractory anaemia with excess blasts
Blood Platelet Disorders
Cataplexy
Congenital Hypothyroidism
Gerstmann-Straussler-Scheinker Disease
Growth Disorders
Hepatic Coma
Hypothyroidism
Creutzfeldt-Jakob disease
Lambert-Eaton Myasthenic Syndrome
Learning Disorders
Acute myelomonocytic leukemia
Memory Disorders
Myasthenia Gravis
orbit (eye disorders)
Other acute reactions to stress
Paresis
Poisoning
Schwartz-Jampel Syndrome
Thanatophoric Dysplasia
Thymus Hyperplasia
Tremor
Saturnine Tremor
Weil Disease
Prenatal Injuries
Senile Tremor
Centronuclear myopathy
Myopathies, Nemaline
Teratocarcinoma
Fatigability
Persistent Tremor
Continuous Tremor
Intermittent Tremor
Fine Tremor
Coarse Tremor
Massive Tremor
Passive Tremor
Static Tremor
Resting Tremor
Darkness Tremor
Neurologic Symptoms
Tremor, Perioral
Tremor, Limb
Tremor, Muscle
Nerve Tremors
Tremor, Neonatal
Amphetamine-Related Disorders
Amphetamine Addiction
Amphetamine Abuse
Isaacs syndrome
Pyloric Atresia
Etat Marbre
Absence of sensation
Congenital Varicella Syndrome
Congenital goiter
Organophosphorus Poisoning
Slow channel syndrome
X-linked centronuclear myopathy
Acute monoblastic leukemia
Pallidopontonigral degeneration
Myasthenic Syndrome
Organophosphate poisoning
Anxiety state
Adult Learning Disorders
Learning Disturbance
Learning Disabilities
Age-Related Memory Disorders
Memory Disorder, Semantic
Memory Disorder, Spatial
Familial Olivopontocerebellar Atrophy
Pill Rolling Tremor
Tremor, Semirhythmic
Myasthenic Syndromes, Congenital
Neuromuscular Junction Diseases
Cerebral Arteriosclerosis
Sarcomatoid Renal Cell Carcinoma
Collecting Duct Carcinoma of the Kidney
Anxiety neurosis (finding)
Inflammatory disorder
Papillary Renal Cell Carcinoma
Developmental Academic Disorder
Involuntary Quiver
Cirrhosis
RESTING HEART RATE
ALZHEIMER DISEASE 2
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
Refractory anemia, without ringed sideroblasts, without excess blasts
Organothiophosphonate Poisoning
Organothiophosphate Poisoning
oligodendroglioma
Invasive aspergillosis
Juvenile Neuronal Ceroid Lipofuscinosis
Well Differentiated Oligodendroglioma
Hemochromatosis
Neoplasm Invasiveness
Pregnancy in Diabetics
Toxoplasmosis
Osteoarthrosis Deformans
Iron deficiency anemia
Anemia, severe
Iron deficiency
Hyperferritinemia, hereditary, with congenital cataracts
Arthritis
Fibromyalgia
Lupus Vulgaris
Lupus Erythematosus, Discoid
Multiple adenomatous polyps
Lupus Erythematosus
Athetosis
insulinoma
Disorder of the optic nerve
Strabismus
Color Blindness, Red-Green
Cerebellar degeneration
Peripheral demyelinating neuropathy
Scotoma, Paracentral
Fumarase deficiency
Depletion of mitochondrial DNA
Hypoplasia of corpus callosum
Cerebellar atrophy
Severe global developmental delay
Progressive microcephaly
Severe psychomotor retardation
Red/green color vision defect
INFANTILE CEREBELLAR-RETINAL DEGENERATION
Optic Neuropathy
Infratentorial atrophy
OPTIC ATROPHY 9
Alloxan Diabetes
Deglutition Disorders
Diabetes Mellitus, Experimental
Dystonia
Orbital separation excessive
Hypodontia
Muscle Hypertonia
Myopia
Respiratory Insufficiency
Streptozotocin Diabetes
Electroencephalogram abnormal
Frontal bossing
Brachycephaly
Low set ears
Inversion of nipple (disorder)
Peroxisomal Disorders
Central nervous system demyelination
Fish-Eye Disease
Sensorineural hearing loss, bilateral
Gait abnormality
Congenital Epicanthus
Systolic Pressure
Deficiency of oxidase
Depressed nasal bridge
Loss of developmental milestones
Developmental regression
Decreased light- and dark-adapted electroretinogram amplitude
Death in early childhood
Intellectual disability, progressive
Peroxisomal ACYL-COA oxidase deficiency
No social interaction
Diffuse hepatic steatosis
Psychomotor regression, progressive
Psychomotor regression in infants
Psychomotor regression
Psychomotor regression beginning in infancy
Neurodevelopmental regression
Death in infancy
Mental deterioration in childhood
Adult-onset citrullinemia type 2
Irritation - emotion
Depressed nasal root/bridge
Respiratory function loss
Dystonic disease
Abnormality of nervous system morphology
Broad cranium shape
Wide skull shape
Concave bridge of nose
Spontaneous abortion
Developmental Disabilities
Colitis
Dwarfism
Favism
Fibroid Tumor
Noonan Syndrome
Parasitic Diseases
Turner Syndrome, Male
Uterine Fibroids
Polycystic Kidney, Autosomal Dominant
Pyoderma Gangrenosum
Autoimmune thyroid disease
Congenital anomaly of face
Acrokeratoelastoidosis of Costa
Lafora Disease
Completed Suicide
Autoimmune thyroiditis
Metastatic Neoplasm
Myopathy, familial idiopathic inflammatory
Opisthotonus
Acid Phosphatase Deficiency
Bleeding tendency
Cooley's anemia
Aortic Valve Stenosis
Bone Diseases
Cherubism
Distemper
Gaucher Disease
Hyperparathyroidism, Secondary
Kyphosis deformity of spine
Hairy Cell Leukemia
Leukemia, T-Cell
Little's Disease
Lordosis
Reticulosarcoma
Micromelia
Microphthalmos
Monoclonal Gammopathy of Undetermined Significance
Osteochondrodysplasias
Osteogenesis Imperfecta
Osteopetrosis
Osteoporosis, Postmenopausal
Osteosarcoma
Purpura
Renal Osteodystrophy
Restrictive lung disease
Chronic pain
Giant Cell Tumor of Bone
Gastrointestinal Carcinoid Tumor
Tophus
bone destruction
Late tooth eruption
Autoimmune thrombocytopenia
Giant Cell Tumor of Soft Tissue
Immune thrombocytopenic purpura
Skeletal dysplasia
Narrow nose
Spondyloenchondrodysplasia
Combined immunodeficiency
Hepatitis B, Chronic
Kyphoscoliosis deformity of spine
Recurrent sinusitis
Strudwick syndrome
Recurrent otitis media
Idiopathic thrombocytopenia
Monoclonal Gammapathies
Lumbar hyperlordosis
Hyperplastic obesity
Metaphyseal irregularity
Abnormal form of the vertebral bodies
Irregular vertebral endplates
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
Hypermelanotic macule
Immune dysregulation
Platyspondyly
Hyperkyphosis
Cellular immunodeficiency
Progressive spastic quadriplegia
Rhizomelia
Tubulointerstitial fibrosis
T-Lymphocytopenia
Restrictive ventilatory defect
Granulomatosis with polyangiitis
Metaphyseal sclerosis
Recurrent respiratory infections
Skin Erosion
Abnormality of epiphysis morphology
Large iliac wings
Hypopigmented skin patches on arms
Abnormality of the metaphysis
Recurrent sinus disease
Tubulointerstitial scarring
Breast Cyst
Breast Diseases
prostatitis
Pyelonephritis
Androgen-Insensitivity Syndrome
Juvenile-Onset Still Disease
Acute onset pain
Cervical Intraepithelial Neoplasia
Adenocarcinoma in Situ
Angioendotheliomatosis
Human papilloma virus infection
Acute pyelonephritis
Tumor Initiation
Hyperalgesia, Thermal
Small Lymphocytic Lymphoma
androgen independent prostate cancer
Non-medullary thyroid carcinoma
Juvenile psoriatic arthritis
Severe Acute Respiratory Syndrome
Blepharoptosis
Cardiomyopathy, Dilated
Atrial Septal Defects
Polyhydramnios
Neuromuscular Diseases
Torticollis
HMN (Hereditary Motor Neuropathy) Proximal Type I
Spasmodic torticollis
Proximal muscle weakness
Wristdrop
Waddling gait
Gowers sign
Weak cry
Reduced fetal movement
Difficulty walking up stairs
Hand muscle atrophy
Progressive muscle weakness
Neck muscle weakness
Byzanthine arch palate
Congenital myopathy (disorder)
Zebra body myopathy
Floppy infant syndrome
Secondary myopathy
Myopathic facies
Flexion contracture - elbow
Flexion contracture of hip
Eichsfeld type congenital muscular dystrophy
Tubular Aggregate Myopathy
Contracture of tendo achilles
Contracture of hamstring(s)
Mask-like facies
Lung function testing abnormal
Autophagic vaculoes (finding)
Nemaline Myopathy, Childhood Onset
Congenital Fiber Type Disproportion
Gowers sign present
Muscle weakness of limb
Congenital muscular dystrophy (disorder)
Distal Muscular Dystrophies
Nemaline Myopathy, Autosomal Dominant
Nemaline Myopathy, Autosomal Recessive
Congenital Structural Myopathy
Frequent falls
Cervical Dystonia
Cardiomyopathy, Hypertrophic, Familial
Bulbar weakness
contracture of elbow
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments
Myopathy, Centronuclear, Autosomal Dominant
Poor head control
Long face
Muscle fiber splitting
Narrow face
Proximal neurogenic muscle weakness
Centrally nucleated skeletal muscle fibers
Cardiac conduction abnormality
Neck flexor weakness
Axial muscle weakness
Increased variability in muscle fiber diameter
Thin face
Mildly elevated creatine phosphokinase
Slender build
Muscle fiber necrosis
NONAKA MYOPATHY
Rimmed vacuoles on biopsy
Type 1 muscle fiber predominance
Spinal rigidity
Increased connective tissue
Reduced tendon reflexes
Handgrip myotonia
Pectus excavatum
Myofibrillar Myopathy
Nemaline Myopathy 3, With Intranuclear Rods
Myopathy, Actin, Congenital, With Cores
Scapuloperoneal myopathy
Autosomal Recessive Centronuclear Myopathy
Autosomal Dominant Myotubular Myopathy
Cap Myopathy
Intranuclear Rod Myopathy
Actin-Accumulation Myopathy
Respiratory insufficiency due to muscle weakness
Nemaline bodies
EMG: neuropathic changes
Acute infantile spinal muscular atrophy
Late-onset distal muscle weakness
Type 1 fibers relatively smaller than type 2 fibers
Bulbar palsy
MYOPATHY, SCAPULOHUMEROPERONEAL
Aneurysm
Aortic Aneurysm
Aortic Diseases
Aortic Valve Insufficiency
Cholestasis, Extrahepatic
Chest Pain
Cholangitis, Sclerosing
Connective Tissue Diseases
Cryptorchidism
Dupuytren Contracture
Dyspnea, Paroxysmal
Ehlers-Danlos Syndrome
Focal glomerulosclerosis
Heart Septal Defects
Hepatitis, Chronic
Marfan Syndrome
Moyamoya Disease
Mydriasis
Ankylosing spondylitis
Telangiectasis
Meningitis, Cryptococcal
Hyalinosis, Segmental Glomerular
Chronic Persistent Hepatitis
Bicuspid aortic valve
Congenital malrotation of intestine
Increased peristalsis
Aortic root dilatation
acute aortic dissection
Cutis marmorata
Endometrioma
Retinal infarction
Aortic Aneurysm, Thoracoabdominal
Dissection of aorta
Ascending aorta dilatation
Congenital aneurysm of ascending aorta
Cystic medial necrosis of aorta
Increase in blood pressure
Cryptogenic Chronic Hepatitis
Impaired left ventricular function
Brain Aneurysm
Adenocarcinoma of lung, stage IV
Stomach churning
Cerebral Aneurysm
Spider Veins
Cerebral arterial aneurysm
Mydriasis, Congenital
Familial (FPAH)
Nephrogenic Fibrosing Dermopathy
Aortic aneurysm and dissection
Ascending aortic dissection
Aortic Aneurysm, Familial Thoracic 2
Copper-Overload Cirrhosis
Cakut
Aortic Aneurysm, Familial Thoracic 6
Moyamoya disease 1
Pulmonary arterial hypertension
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
Idiopathic pulmonary arterial hypertension
Dilated ventricles (finding)
MOYAMOYA DISEASE 5
Patent ductus arteriosus - persisting type
AORTIC VALVE DISEASE 2
RIENHOFF SYNDROME
Abnormality of the cerebral vasculature
Descending aortic dissection
Moyamoya phenomenon
Abnormality of the iris
Obstructive Ureterocele
Dupuytren's Disease
Periventricular white matter hyperdensities
Ectasia of thoracic aorta
Dilatation of the cerebral artery
Aphasia
Ataxia Telangiectasia
Barrett Esophagus
Carcinoma
Bronchogenic Carcinoma
Noninfiltrating Intraductal Carcinoma
Choroideremia
Congenital ocular coloboma (disorder)
Craniosynostosis
Dysostoses
Echolalia
Encephalitis Lethargica
Epilepsy, Temporal Lobe
Esophageal Achalasia
Fetal Alcohol Syndrome
Gastrinoma
Hepatitis, Alcoholic
Hodgkin Disease
Hydronephrosis
Hyperthyroidism
Kartagener Syndrome
Leukodystrophy, Metachromatic
Low Birth Weights
Lymphopenia
Macroglossia
Macrostomia
Animal Mammary Neoplasms
Mammary Neoplasms, Experimental
Meniere Disease
Micrognathism
Mild Mental Retardation
Spinal Muscular Atrophy
Mutism
Osteochondrosis
Pituitary Adenoma
Pituitary Diseases
Polycystic Ovary Syndrome
Ptosis
Rett Syndrome
Sarcoidosis
Seminoma
Post-Traumatic Stress Disorder
Rous Sarcoma
Thyroid Gland Follicular Adenoma
Retinoschisis
Old myocardial infarction
Streptococcal pneumonia
Peritoneal adhesion
Cleft palate with cleft lip
Congenital pectus carinatum
Joint stiffness
HELLP Syndrome
Follicular adenoma
Anaplastic carcinoma
Carcinoma, Spindle-Cell
Undifferentiated carcinoma
Carcinomatosis
Mental deterioration
Small for gestational age (disorder)
High forehead
Coloboma of iris
Fundus coloboma
Carcinoma, Small Cell
Parathyroid Adenoma
Pigmented hairy epidermal nevus
Rotator cuff syndrome
Trigonocephaly
Cranioschisis
Accessory nipple
Lissencephaly
Polymicrogyria
Pachygyria
Qualitative abnormality of granulocyte
Late fontanel closure
Phosphate Diabetes
High altitude pulmonary edema
Craniofacial Abnormalities
Dystonia, Paroxysmal
Dystonia Disorders
Dystonia, Diurnal
Telecanthus
Heterochromia iridis
Small nose
Large nose
Wide nose
Large fontanelle
Secondary malignant neoplasm of liver
Congenital neurologic anomalies
Short neck
Dilatation of ureter
Hepatitis C, Chronic
Thin lips
Stage IV Colorectal Cancer
Hypophosphatemic Rickets, X-Linked Dominant
Dystonia, Limb
Malignant neoplasm tonsil
Hypoxic-Ischemic Encephalopathy
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
Invasive carcinoma of breast
Dysphasia
Endometrial adenocarcinoma
Ductal Carcinoma
Mammary Carcinoma, Animal
Lipoatrophy
Congenital euryblepharon
Astrocytoma, low grade
Infiltrating Cervical Carcinoma
Hypertrophy of nose
Sensory hearing loss
Overfolded helix
Cerebrofrontofacial Syndrome
Long nose
Pointed chin
Coarse facial features
Juvenile-onset dystonia
Externally rotated hips
Hypoplastic scapulae
Shoulder girdle muscle atrophy
Generalized dystonia
Long palpebral fissure
Fryns-Aftimos Syndrome
Short nose
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Low posterior hairline
Hypoplastic mandible condyle
Short columella
Prominent metopic ridge
Becker Nevus Syndrome
Depressed nasal tip
Postnatal growth retardation
Long philtrum
Thin upper lip vermilion
Full cheeks
Highly arched eyebrow
Agyria
Malformations of Cortical Development
Regurgitation
Psychomotor retardation, mild
Severe hypoxic ischemic encephalopathy
Chubby cheeks
Stage IV Colorectal Cancer AJCC v7
Familial Hypophosphatemic Rickets
Vitamin D-Resistant Rickets, X-Linked
Puffy cheeks
Canine Osteosarcoma
Mild global developmental delay
Bowed and upward slanting eyebrows
Uroureter
Oral cleft
Death in early adulthood
Cerebral cortical hemiatrophy
Subcortical cerebral atrophy
Aplasia/Hypoplasia of the breasts
Aplasia/Hypoplasia of the mandible
Specific learning disability
Large bregma sutures
Large, late-closing fontanelle
Wide bregma sutures
Thickened facial skin with coarse facial features
Chronic alcoholic liver disease
Kabuki syndrome eyelids
Repeated speech
Abnormal skeletal development
Hypoplasia of columella
Hyperplasia of nose
Hypertrophy of cheeks
Hyperplasia of cheeks
Wedge shaped head
Triangular head shape
Decreased projection of lower jaw
Decreased projection of mandible
Retrusion of lower jaw
Aortopulmonary Septal Defect
Chagas Cardiomyopathy
Absence Epilepsy
Muscle Rigidity
Atrial Premature Complexes
Refractive Errors
Conduction disorder of the heart
Familial dilated cardiomyopathy
Ostium secundum atrial septal defect
Rigor - Temperature-associated observation
Ametropia
Hereditary Diffuse Gastric Cancer
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
Left ventricular noncompaction
Cardiomyopathy, Familial Hypertrophic, 11
Atrial Septal Defect 5
CARDIOMYOPATHY, DILATED, 1R
LEFT VENTRICULAR NONCOMPACTION 4
Left ventricular noncompaction cardiomyopathy
Osteoporosis, Age-Related
Neoplastic Cell Transformation
Osteoporosis
Osteoporosis, Senile
Viremia
Congenital coloboma of iris
Simple ear
Post-Traumatic Osteoporosis
Abnormality of the pinna
Pelvic Organ Prolapse
Immune Reconstitution Inflammatory Syndrome
Progressive sensorineural hearing impairment
Deafness, Autosomal Dominant 20
BARAITSER-WINTER SYNDROME 2
Young adult onset
Nonsyndromic Deafness
Abdomen distended
Cholestasis
Fibrosis
Intestinal Pseudo-Obstruction
Nausea and vomiting
Vesico-Ureteral Reflux
Visceral Myopathy
Decreased peristalsis
Chronic intestinal pseudo-obstruction
Microcolon
Visceral Myopathy, Familial
Cholestasis of pregnancy
Congenital dilatation of bladder
Disorder of smooth muscle
Megacystis microcolon intestinal hypoperistalsis syndrome
Megaduodenum and-or Megacystis
LATERAL MENINGOCELE SYNDROME
Megacystis
LIMB-MAMMARY SYNDROME
Visceral Neuropathy, Familial, Autosomal Dominant
Fetal megacystis
Secondary Neoplasm
Microcolon on contrast enema
Multicystic Dysplastic Kidney
Intestinal hypoperistalsis
Aplasia/Hypoplasia of the abdominal wall musculature
Edema
IGA Glomerulonephritis
Nephrosclerosis
Lipoid nephrosis
Proteinuria
Kidney Failure
AIDS-Associated Nephropathy
Malignant neoplasm of tongue
Glomerulosclerosis (disorder)
Adenocarcinoma, Clear Cell
Congenital contractural arachnodactyly
Fallopian Tube Carcinoma
Renal sclerosis with hypertension
Body fluid retention
Renal glomerular disease
Diffuse mesangial sclerosis (disorder)
Stage IV Ovarian Carcinoma
Segmental glomerulosclerosis
Steroid-resistant nephrotic syndrome
Salcedo syndrome
Nephrotic syndrome, focal and segmental glomerular lesions
Fibrosing disease
Tongue Carcinoma
Secondary malignant neoplasm of lymph node
Nephronophthisis
Adenocarcinoma of lung, stage I
Decreased albumin
Carcinoma, Pancreatic Ductal
Salivary gland carcinoma
Liver Dysplastic Nodule
Invasive Skin Melanoma
Primary Focal Segmental Glomerulosclerosis
Hypomagnesemia 1, Intestinal
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
Collapsing glomerulopathy
Nephrotic syndrome with focal and segmental hyalinosis
Nephrotic syndrome with focal and segmental sclerosis
Nephrotic syndrome with focal glomerulonephritis
Autosomal dominant focal segmental glomerulosclerosis
Steroid resistant nephrotic syndrome of childhood
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Platelet mean volume determination (procedure)
Carcinoma, Endometrioid
Anisocytosis
Platelet distribution width measurement
Increased mean platelet volume
Platelet distribution width result
Pneumonia, Ventilator-Associated
Macrothrombocytopenia
BLEEDING DISORDER, PLATELET-TYPE, 15
Autosomal dominant macrothrombocytopenia
Dental caries
Endocardial Fibroelastosis
Trichomonas Infections
Caries (morphologic abnormality)
Endomyocardial Fibrosis
Cardiomyopathy, Dilated, 1AA
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT VENTRICULAR NONCOMPACTION
Glycogen Storage Disease Type V
Generalized glycogen storage disease of infants
Muscle damage
Sarcopenia
Bunion
Deafness
Endocardial Cushion Defects
Fibrodysplasia Ossificans Progressiva
Hallux Valgus
Hearing Loss, Partial
Myositis Ossificans
Subcutaneous nodule
Acquired hallux valgus
Subependymal Giant Cell Astrocytoma
Acute Lung Injury
mixed gliomas
Congenital hallux valgus
Diffuse Astrocytoma
Protoplasmic astrocytoma
Gemistocytic astrocytoma
Fibrillary Astrocytoma
Pilocytic Astrocytoma
Childhood Cerebral Astrocytoma
Congenital deafness
Partial atrioventricular canal
Mixed oligoastrocytoma
Malignant Glioma
Brain Stem Glioma
Multiple, subcutaneous nodules
Cerebral Astrocytoma
Intracranial Astrocytoma
Posterior subcapsular cataract
Atypical Lipoma
Congenital malformation syndrome
Childhood Brain Stem Neoplasm
Grade I Chondrosarcoma
Atrioventricular Septal Defect
Grade I Astrocytoma
Neonatal Deformity
Abnormal vertebral morphology
Widely spaced teeth
Broad femoral neck
Metaphyseal widening
Short 1st metacarpal
Clinodactyly of the 5th finger
Progressive cervical vertebral spine fusion
Small cervical vertebral bodies
Limitation of joint mobility
Short hallux
Myeloid and Lymphoid Neoplasms with FGFR1 Rearrangement
Diffuse Intrinsic Pontine Glioma
Multiple vertebral anomalies
Abnormal vertebral bodies
Ectopic ossification in ligament tissue
Ectopic ossification in tendon tissue
Ectopic ossification in muscle tissue
Aplasia/Hypoplasia of the phalanges of the hallux
Abnormality of the first metatarsal bone
Curvature of little finger
Pituitary Neoplasms
Neutrophil count (procedure)
Eosinophil count procedure
Blood basophil count (lab test)
Eosinophil count result
Granulocyte count
Pancreatic Intraductal Papillary-Mucinous Neoplasm
Chondrosarcoma
Enchondromatosis
Hereditary Multiple Exostoses
Gastrointestinal Neoplasms
Marinesco-Sjogren syndrome
Pierre Robin Syndrome
Uric acid measurement (procedure)
Osteochondromatosis
Endometriosis of uterus
Microsatellite Instability
Cervical Squamous Intraepithelial Neoplasia
Replication Error Phenotype
Dextrocardia
Ventricular Septal Defects
Premature Obstetric Labor
Premature Menopause
Right aortic arch (disorder)
Situs Inversus
Thalassemia
Asplenia Syndrome
Polysplenia Syndrome
Ectopic spleen
Situs ambiguus
Isomerism of atrial appendages
Beta thalassemia intermedia
Situs ambiguous
Nephrogenic rest
ATRIOVENTRICULAR CANAL DEFECT
HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 1, X-LINKED
Heterotaxy, Visceral, 3, Autosomal
Polyasplenia
VAH, AUTOSOMAL RECESSIVE
Heterotaxy, Visceroatrial, Autosomal Recessive
Isomerism of atrial appendages with asplenia or polysplenia
HETEROTAXY, VISCERAL, 4, AUTOSOMAL
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
Heterotaxy Syndrome
Right Atrial Isomerism
Left Atrial Isomerism
HETEROTAXY, VISCERAL, 6, AUTOSOMAL
Ciliopathies
Congenital arteriovenous malformation
Brain Abscess
Intracranial Arteriovenous Malformation
Cholecystitis
Cyanosis
Epistaxis
Hemangioma, Cavernous
Hematemesis
Hematochezia
Hypertension, Portal
White Blood Cell Count procedure
Melena
Pulmonary Veno-Occlusive Disease (disorder)
Scimitar Syndrome
Dermatologic disorders
Hereditary hemorrhagic telangiectasia
Peripheral T-Cell Lymphoma
Angiodysplasia
Iron-Refractory Iron Deficiency Anemia
Clubbing
Intracranial Hemorrhages
Idiopathic pulmonary hypertension
Vascular anomaly
Monocyte count procedure
Ki-1+ Anaplastic Large Cell Lymphoma
Conjunctival telangiectasis
Angiodysplasia of colon
Inflammatory Myofibroblastic Tumor
Arteriovenous hemangioma
Sporadic primary pulmonary hypertension
Familial primary pulmonary hypertension
Juvenile polyposis syndrome
Spinal arteriovenous malformation
Thromboxane synthetase deficiency
Right to left cardiovascular shunt (finding)
Platelet hematocrit measurement
Feces color: tarry
Arteriovenous malformation of liver
Brain hemorrhage
Gastrointestinal arteriovenous malformation
Intermittent migraine headaches
Monocyte count result
Dural Arteriovenous Fistula
Gastrointestinal angiodysplasia
Arteriovenous Malformations, Cerebral
Transient Cerebral Ischemia
Systemic Anaplastic Large Cell Lymphoma
Erythrocytosis
Gastrointestinal telangiectasia
Spontaneous hematomas
Familial pulmonary arterial hypertension
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
OSLER-RENDU-WEBER SYNDROME 2
Nail bed telangiectasia
Pulmonary arteriovenous malformation
Lip telangiectasia
Palate telangiectasia
Fingerpad telangiectases
Polyglobulia
Congenital vascular anomaly
Choriocapillaris atrophy
Spontaneous, recurrent epistaxis
Vascular Remodeling
Pulmonary Arterial Remodeling
Visceral angiomatosis
Telangiectasia of the skin
Nasal mucosa telangiectasia
Tongue telangiectasia
Palatal spider veins
Angioectasias of the tongue
Spider veins of the lip
Angioectasias of the lip
Frequent nosebleeds
Adenocarcinoma of prostate
Biotinidase Deficiency
Acute encephalopathy
Aminoacylase 1 deficiency
Delayed CNS myelination
Chronic osteomyelitis
Sudden Cardiac Arrest
HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO
Autoimmune hemolytic anemia
Anemia, Hemolytic, Congenital
Cockayne Syndrome
Exfoliative dermatitis
Hemorrhage
Hydatidiform Mole
Hyperemia
Leishmaniasis
Lymphocytosis
Measles
Pancytopenia
Paranasal Sinus Diseases
Peyronie Disease
Polyarteritis Nodosa
Post-kala-azar dermal leishmaniasis
Pruritus
Pulmonary Edema
Pulmonary Valve Insufficiency
Sinusitis
Skin Diseases, Genetic
Spinal Cord Diseases
Tuberculosis, Meningeal
Peritonitis, Tuberculous
Pleural Tuberculosis
Uveitis
Venous Engorgement
Wiskott-Aldrich Syndrome
Pleural Effusion, Malignant
Stupor
Macrocytosis
Immunoglobulin A deficiency (disorder)
Reactive Hyperemia
HIV Encephalopathy
Dermatofibrosarcoma
Increased IgE level
Acute lower respiratory tract infection
IgM deficiency
Thick skin
Chronic heart failure
Vesicular Stomatitis
Adenosine deaminase deficiency
Purine-nucleoside phosphorylase deficiency
GALACTOSIALIDOSIS
HIV encephalitis
Active Hyperemia
Histiocytic sarcoma
Maturity onset diabetes mellitus in young
Severe combined immunodeficiency due to adenosine deaminase deficiency
Dermatofibrosarcoma Protuberans
Primary immune deficiency disorder
Chronic diarrhea
pricking of skin
hiv-infection/aids
Tonsil absent
Recurrent upper respiratory tract infection
Congenital absence of thymus
Recurrent pneumonia
Multiple pulmonary infections
Malignant Peripheral Nerve Sheath Tumor
Post MI
Congenital hypoplastic anemia
Anemia, Diamond-Blackfan
X-Linked Combined Immunodeficiency Diseases
Bone marrow myeloid dysplasia
Undifferentiated leukemia
Skin Carcinogenesis
Disorder of immune function
Recurrent opportunistic infections
Recurrent viral infection
Desquamation of skin soon after birth
Recurrent bacterial infection
Recurrent fungal infections
Anterior rib cupping
Absence of lymph node germinal center
Sparse/absent eyebrows
Absent cellular immunity
B lymphocytopenia
Recurrent pulmonary infections
SCID Due to ADA Deficiency, Early-Onset
Partial adenosine deaminase deficiency
Absent specific antibody response
Severe B lymphocytopenia
Somatic mosaicism
Absence of eyebrow
Pediatric Obesity
Omenn Syndrome
Combined immunodeficiency disease
Increased susceptibility to bacterial infections
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
Sparse or absent eyebrows
Giant Cell Fibroblastoma
Middle East Respiratory Syndrome
Reactive airway disease
Inflammatory dermatosis
Absence of B cells
Prone to bacterial infection
Abnormality of pelvic girdle bone morphology
Diffusely thickened skin
Immunoglobulin IgG2 deficiency
Abnormality of the skeletal system
Aplasia/Hypoplasia of the eyebrow
Reduced red cell adenosine deaminase activity
Anti-thyroid peroxidase antibody positivity
Absent thymic shadow
Synovitis
Brain Tumor, Primary
Carcinoma, Papillary
Eczema
Fragile X Syndrome
Acute monocytic leukemia
Scrapie
Skin Diseases, Infectious
Staphylococcal Infections
Conduct Disorder
Epstein-Barr Virus Infections
Secondary malignant neoplasm of lung
Uveal melanoma
Cardiac dilatation
Squamous cell carcinoma of the hypopharynx
Restenosis
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
Reticulate acropigmentation of Kitamura
Malignant neoplasm of kidney
M5b Acute differentiated monocytic leukemia
Stage IV Skin Melanoma
Renal carcinoma
Severe Sepsis
Idiopathic normal pressure hydrocephalus (INPH)
dowling-degos disease
ALZHEIMER DISEASE 18
Hepatitis D Infection
Dystonia Musculorum Deformans
Profound Mental Retardation
Lymphocytic Choriomeningitis
Salmonella infections
Spastic Paraplegia, Hereditary
Arhinencephaly
Complete atrioventricular block
Non-arthropod borne lymphocytic choriomeningitis
Metastatic melanoma
Macule
AICARDI-GOUTIERES SYNDROME
Coloboma of eyelid
Loss of speech
Macular hyperpigmentation
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
AICARDI-GOUTIERES SYNDROME 1
Loss of ability to walk
Dyschromatosis universalis hereditaria
Profound intellectual disabilities
Aicardi-Goutieres Syndrome 2
Pseudo-TORCH syndrome
AICARDI-GOUTIERES SYNDROME 6
Macular hypopigmentation
Hyperpigmented/hypopigmented macules
Porencephalic cyst
Mental disorders
Transient Ischemic Attack
Other specified transient cerebral ischemias
Abnormal behavior
Finding of body mass index
Bipolar I disorder
Sclerocystic Ovaries
Body mass index
Drug abuse
Drug habituation
Drug Use Disorders
Organic Mental Disorders, Substance-Induced
Substance Dependence
Substance Use Disorders
Substance-Related Disorders
Substance abuse problem
Age at menarche
Drug Dependence
Prescription Drug Abuse
Substance Withdrawal Syndrome
Drug Withdrawal Symptoms
Withdrawal Symptoms
Quality of sleep
Hyperkinesia, Generalized
DEAFNESS, AUTOSOMAL RECESSIVE 44
Prelingual sensorineural hearing impairment
Severe chronic obstructive pulmonary disease
Attention deficit hyperactivity disorder
response to antineoplastic agent
Diabetic Angiopathies
Microangiopathy, Diabetic
Diastolic blood pressure
Hip circumference
Birth Weight
Dyskinetic syndrome
Glucose tolerance test
Myoclonus
Cardiomyopathies, Primary
Myocardial Diseases, Secondary
Hypoplastic Left Heart Syndrome
Polycystic liver disease
Lymphocyte Count measurement
Ventricular Dysfunction, Left
Facial Myokymia
Benign Hereditary Chorea
Fasting blood glucose measurement
Myokymia
Neurodevelopmental Disorders
Myoclonic dystonia
Limb hypertonia
Dyskinesia, Familial, with Facial Myokymia
Chorea, Benign Familial
Anxiety disease
alpha-Thalassemia
Cyst
Cystic kidney
Nodule
Thyroid Nodule
Oropharyngeal Dysphagia
LETHAL CONGENITAL CONTRACTURE SYNDROME 8
Common Variable Immunodeficiency
Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia (AML-M2)
Neurofibromatosis 1
Waist Circumference
Glucocorticoid Receptor Deficiency
Cystitis
Congenital Hydrocephalus
Miosis disorder
Polyp of gallbladder
Myeloma kidney
Overactive Detrusor
Akathisia
Anxiety and fear
Overactive Bladder
Bulbo-Spinal Atrophy, X-Linked
Psychomotor Agitation
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation
Hydrocephalus
Symptoms of stress
Albuminuria
Alcohol consumption
Hyperaldosteronism
Hyperlipidemia, Familial Combined
Hypernatremia
Endolymphatic Hydrops
Systolic hypertension
Endocrine hypertension
Xerocytosis
Monosomy 22
Conn Syndrome
Familial Ménière disease
Elliptocytosis, Hereditary
Attention Deficit Disorder
Urticaria
Welts
Miyoshi myopathy
SPHEROCYTOSIS, TYPE 1 (disorder)
Biliary Atresia
Encephalopathy, Toxic
Toxic Encephalitis
Pyramidal sign
Neurotoxicity Syndromes
Spastic Quadriplegia
Mental impairment
Perineurioma
Soft tissue perineurioma
Difficulty speaking
Supranuclear gaze palsy
Poor speech
Cerebral Palsy, Spastic Quadriplegic, 1
Problems speaking
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3
Leukemia, Plasma Cell
Acrodermatitis enteropathica
Triglyceride storage disease with ichthyosis
Secretory breast carcinoma
Autosomal dominant retinitis pigmentosa
Placental Choriocarcinoma
Childhood Renal Cell Carcinoma
HER2 gene amplification
Apocrine Carcinoma
Pseudohyperkalemia Cardiff
Mammary Analogue Secretory Carcinoma
Hypercalciuria
Hypocalcemia
Malignant neoplasm of pharynx
Xanthoma tendinosum
Pharyngeal Carcinoma
Atypical Ductal Breast Hyperplasia
Autosomal dominant hypocalcemia
Acute pancreatitis
Alcohol Use Disorder
Alcoholic Intoxication
Anemia, Macrocytic
Antisocial Personality Disorder
Flushing
Head Neoplasms
Laryngeal Diseases
Alcoholic Liver Diseases
Nasopharyngeal Neoplasms
Nausea
Neck Neoplasms
Nicotine Dependence
Pancreatic Pseudocyst
Pharyngeal Neoplasms
Erythema
Viral hepatitis
Alcoholic Neuropathy
Oral Cavity Carcinoma
Polyneuropathy
Atrophy of testis
Antisocial behavior
Alcohol withdrawal syndrome
Alcohol-Related Disorders
Bipolar II disorder
Fibrosis of pancreas
Proliferative retinopathy
Hypocalciuric hypercalcemia, familial, type 1
Wernicke-Korsakoff Syndrome
Hangover from alcohol
Acute alcoholic intoxication
Alcohol problem
Drunk driving
Esophageal dysplasia
alcohol flush reaction
hazardous drinking
heavy drinking
Hyperuricemia
ABUSE NEGLECT
Cancer of Neck
Cerebral Infarction, Left Hemisphere
Cerebral Infarction, Right Hemisphere
Anterior Choroidal Artery Infarction
Subcortical Infarction
Cancer of Head
Posterior Choroidal Artery Infarction
Upper Aerodigestive Tract Neoplasms
High Grade Intraepithelial Neoplasia
Fetus or newborn affected by alcohol transmitted via placenta or breast milk
Familial benign hypercalcemia
Alcohol Related Birth Defect
Alcohol abuse or dependence
Dysequilibrium syndrome
Gastrointestinal symptom
Excessive drinking
alcohol-related liver disease
PARKINSON DISEASE, MITOCHONDRIAL (disorder)
PARKINSON DISEASE, LATE-ONSET
Cluster Headache
Sjogren-Larsson Syndrome
Malignant neoplasm of endometrium
Endometrial Carcinoma
Uterine Corpus Cancer
Mental Retardation, Psychosocial
Neutropenia
Odontogenesis
Tooth eruption
Decreased liver function
Increased bilirubin level (finding)
Narrow foot
Recurrent seizures
Brain Infarction
Hypospadias
Drug Resistant Epilepsy
Cholestasis in newborn
Hippocampal sclerosis
Portal fibrosis shown on biopsy
Liver dysfunction, mild
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
Portal fibrosis
Increased head circumference
Increased size of skull
Big calvaria
Angina, Unstable
Cardiac Arrhythmia
Arterial Occlusive Diseases
Asphyxia Neonatorum
Chorioamnionitis
Diabetic Ketoacidosis
Encephalitis
Encephalitis, St. Louis
Endometrial Neoplasms
Endometrial Hyperplasia
Angle Closure Glaucoma
Glomerulonephritis
Hyperalgesia
Malignant Hypertension
Hypertension, Renovascular
Hypotension
Transient ischemia
Jaundice, Obstructive
Lupus Nephritis
Mucocutaneous Lymph Node Syndrome
Myositis
Pyemia
Reperfusion Injury
Retinal Necrosis Syndrome, Acute
Sclerosis
Septic Shock
Skin Neoplasms
Ureteral obstruction
Urinary tract infection
Varicosity
Renal fibrosis
Proliferative diabetic retinopathy
Swelling of limb
Plexiform Neurofibroma
Hyperparathyroidism, Primary
Pain, Burning
Ache
Radiating pain
Proliferative vitreoretinopathy
Systemic Inflammatory Response Syndrome
Carcinoma, Lewis Lung
Chronic cerebral ischemia
Chronic acquired lymphedema
Stable angina
Choroid Plexus Carcinoma
Allodynia
Pain, Splitting
Pain, Crushing
Fluid overload
Renal artery occlusion
Community acquired pneumonia
Macular fibrosis
Central Serous Chorioretinopathy
Middle Cerebral Artery Occlusion
Hyperalgesia, Primary
Hyperalgesia, Secondary
Tactile Allodynia
Pain, Migratory
Suffering, Physical
Medullary Neoplasms
Stenosis
Cardiovascular morbidity
Invasive Carcinoma
obsolete Peripheral vascular insufficiency
Angiogenic Switch
Neoplasms, Intracranial
tumor vasculature
Bright Disease
Dysglycemia
Mechanical Allodynia
Catalepsy
Headache
Hypersomnia with Periodic Respiration
Nerve Degeneration
Prenatal Exposure Delayed Effects
Sleep Apnea Syndromes
Waxy flexibility
Pick Disease of the Brain
Middle Cerebral Artery Syndrome
Ventricular Dysfunction
Perinatal Subarachnoid Hemorrhage
Sleep Apnea, Mixed Central and Obstructive
Bradycardia
Posterior Circulation Transient Ischemic Attack
Subarachnoid Hemorrhage, Spontaneous
Middle Cerebral Artery Thrombosis
Infarction, Middle Cerebral Artery
Carotid Circulation Transient Ischemic Attack
Transient Ischemic Attack, Vertebrobasilar Circulation
Crescendo Transient Ischemic Attacks
Brain Stem Ischemia, Transient
Subarachnoid Hemorrhage, Aneurysmal
Dentatorubral-Pallidoluysian Atrophy
Middle Cerebral Artery Embolus
Left Middle Cerebral Artery Infarction
Embolic Infarction, Middle Cerebral Artery
Thrombotic Infarction, Middle Cerebral Artery
Right Middle Cerebral Artery Infarction
Subarachnoid Hemorrhage, Intracranial
Transient Ischemic Attack, Anterior Circulation
Agoraphobia
Endogenous depression
Sleep Initiation and Maintenance Disorders
Lesch-Nyhan Syndrome
Melancholia
Primary Insomnia
Psychoses, Drug
Psychoses, Substance-Induced
Syncope
Depressive Syndrome
Panic Attacks
Obstructive nephropathy
Renal interstitial fibrosis
Rebound Insomnia
Depression, Neurotic
Phobic anxiety disorder
Nonorganic Insomnia
Anxiety States, Neurotic
Abnormal involuntary movement
Transient Insomnia
Pervasive Development Disorder
Early Awakening
inflammatory joint disease
Tardive Dyskinesia
Chronic Insomnia
Psychophysiological Insomnia
Secondary Insomnia
Sleep Initiation Dysfunction
Sleeplessness
Weight decreased
Drug-induced tardive dyskinesia
Irritable Bowel Syndrome
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
Anthrax disease
Borna Disease
Cystadenoma
Diabetic Neuropathies
Toxic Epidermal Necrolysis
Arterial Fatty Streak
Meningitis
Acoustic Neuroma
Nevus
Melanocytic nevus
Rheumatic Fever
Stevens-Johnson Syndrome
Tongue Neoplasms
Trigeminal Neuralgia
Vitamin A Deficiency
Ichthyosis, X-Linked
Familial benign pemphigus
Central Nervous System Neoplasms
Synovial Cyst
Pseudopelade
Cutaneous Melanoma
Malignant tumor of peritoneum
Androgenetic Alopecia
Dermatitis, Phototoxic
Germ cell tumor
Comedone
Zinc deficiency
Triphalangeal thumb
Ramsay Hunt Paralysis Syndrome
Female pattern alopecia (disorder)
Acute respiratory failure
Atheroma
Congenital kyphosis
Diabetic Polyneuropathies
Ovarian epithelial cancer recurrent
Adult Burkitt Lymphoma
Childhood Burkitt Lymphoma
Breast Cancer, Familial
Skin Papilloma
Congenital laryngeal adductor palsy
Nijmegen Breakage Syndrome
Asymmetric crying face association
Dyslexia
Allergic encephalitis
Ewings sarcoma
Cockayne Syndrome, Type II
Lymphangioleiomyomatosis
Autosomal Dominant Juvenile Parkinson Disease
Autosomal Dominant Parkinsonism
Autosomal Recessive Parkinsonism
Parkinsonism, Experimental
Familial Juvenile Parkinsonism
Parkinsonism, Juvenile
Adenomatous polyp of colon
Precursor B-lymphoblastic lymphoma/leukemia
Ischemia of kidney
Small cell carcinoma of esophagus
Intestinal Polyposis
Large cell medulloblastoma
Drug-Induced Stevens Johnson Syndrome
Hormone refractory prostate cancer
Classical Hodgkin's Lymphoma
Benign melanocytic nevus
Phototoxicity
Rash and Dermatitis Adverse Event Associated with Chemoradiation
Classic medulloblastoma
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
Southeast Asian ovalocytosis
Urothelial Carcinoma
Steroid Sulfatase Deficiency Disease
Ceroid lipofuscinosis, neuronal 1, infantile
Fibroatheroma
WARSAW BREAKAGE SYNDROME
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Mycoplasma-Induced Stevens-Johnson Syndrome
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum
Experimental Organism Basal Cell Carcinoma
High grade serous carcinoma
Alopecia, Male Pattern
Stage IV Breast Cancer AJCC v6 and v7
Infantile Severe Myoclonic Epilepsy
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
Generalized Epilepsy with Febrile Seizures Plus
Bladder neck obstruction
Cannabis Dependence
Malignant neoplasm of skin
Cocaine Abuse
Parathyroid Diseases
Kaposi Sarcoma
Schizoaffective Disorder
Nephrogenic Diabetes Insipidus
Kallmann Syndrome
Acrodysostosis
Chronic schizophrenia
Inflammatory pain
Taste bitter
Paroxysmal atrial fibrillation
Pulmonary Cystic Fibrosis
Clumsiness - motor delay
Lower Urinary Tract Symptoms
genetic hypertension
Cocaine Dependence
Ventricular Remodeling
Left Ventricle Remodeling
Taste sweet
Blastoma
Primary Effusion Lymphoma
Tumor Immunity
Prostatic Hypertrophy
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
Long Qt Syndrome 2
Hypogonadism, Isolated Hypogonadotropic
cocaine use
Behavior Disorders
Massive Osteolyses
Polydipsia
Epilepsy, Cryptogenic
Other anxiety states
Aura
Drug usage
Inattention
Awakening Epilepsy
Rat Insulinoma
Tremor of hands
cardiac event
Spasmodic movement
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1
Infrequent generalized seizures
EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2
Involuntary jerking movements
EEG with photoparoxysmal response
Enhancement of the C-reflex
Jerk-locked premyoclonus spikes
Cerebral cortex myoclonus
Giant somatosensory evoked potentials
EEG with irregular generalized spike and wave complexes
Constipation
Torsades de Pointes
Functional Gastrointestinal Disorders
Chronic systolic heart failure
Hemangioma
Myocardial Reperfusion Injury
Periodontitis
Tachycardia, Ventricular
Ventricular arrhythmia
Strawberry nevus of skin
Ischemic cardiomyopathy
Social Anxiety
Uncomplicated hypertension
Ventricular failure
Heart Failure, Systolic
Left ventricular systolic dysfunction
ST segment elevation myocardial infarction
Takotsubo Cardiomyopathy
AIDS Dementia Complex
Bacteremia
Bronchiolitis
Forced expiratory volume function
Hernia, Inguinal
Hypokalemia
Intermittent Claudication
Mitral Valve Stenosis
Myocarditis
Respiratory Syncytial Virus Infections
Spasm
Status Asthmaticus
Tachycardia
Temporomandibular Joint Disorders
Bronchial Hyperreactivity
Meningitis, Bacterial
Depressive Symptoms
Hypokalemic periodic paralysis
Viral Encephalitis
Abnormality of the thymus
Rheumatic mitral stenosis
Thyrotoxic periodic paralysis
Loss of hypoglycemic warning
Acute cardiac pulmonary edema
Fetal acidosis
Complex Regional Pain Syndromes
Labor Pain
airway disease
COPD exacerbation
Adult onset asthma
Parasitic infection
psychological distress
HIV-1-Associated Cognitive Motor Complex
Postural Orthostatic Tachycardia Syndrome
Seasonal rhinitis
Primary congenital glaucoma
Prehypertension
Lipidemias
Mild persistent asthma
METABOLIC SYNDROME, SUSCEPTIBILITY TO
Maternal Hypotension
Aspirin exacerbated respiratory disease
HIV Coinfection
Lipoatrophic Diabetes Mellitus
Lipomatosis, Multiple Symmetrical
Retinopathy of Prematurity
Microvascular Angina
Hyperandrogenism
Familial generalized lipodystrophy
Precocious pubarche
Sleep Apnea, Obstructive
Observation of Neuromuscular Block
Congenital Generalized Lipodystrophy Type 2
Dystrophia myotonica 2
Obesity, Visceral
Insulin resistance syndrome
Overactive bladder syndrome
Acromegaly
Blastocyst Disintegration
Right Ventricular Hypertrophy
Multiple Sclerosis, Relapsing-Remitting
Embryo Loss
Embryo Disintegration
Resistance to Insulin-Like Growth Factor I
Hypertensive left ventricular hypertrophy
Sessile Serrated Adenoma/Polyp
Manic Disorder
Manic
WHIM syndrome
Aggressive behavior
Self Mutilation
Hypokinesia
Difficulty standing
Adenylosuccinate lyase deficiency (disorder)
Argininosuccinic Aciduria
Inappropriate laughter
Physical aggression
Dysmorphic facies
Unable to walk
Nonverbal
Gait Ataxia
Smooth philtrum
Deformity of face
Poor eye contact
Aggressive reaction
Flat occiput
Progressive neurologic deterioration
Absent speech
Brisk reflexes
Cerebral hypomyelination
Hypointensity of cerebral white matter on MRI
Generalized myoclonic seizures
Distortion of face
Funny looking face
Flat back of the head
Malignant neoplasm of connective and other soft tissue, site unspecified
Eczema Herpeticum
Adult Cholangiocarcinoma
Branchio-Oculo-Facial Syndrome
Hyperkeratosis
Bronchitis, Chronic
Ciliary Motility Disorders
Alveolar rhabdomyosarcoma
Abdominal wall defect
Gastroschisis
Syphilis
Complete trisomy 18 syndrome
Intestinal infectious disease (disorder)
Hair Color
Eye Color
Optic Atrophy, Autosomal Dominant
FRAXE Syndrome
MIXED LINEAGE LEUKEMIA
Apraxias
Beckwith-Wiedemann Syndrome
Embolism, Tumor
Yolk Sac Tumor
Gonadal Disorders
Hepatoma, Morris
Hepatoma, Novikoff
Liver Neoplasms, Experimental
Primary Malignant Liver Neoplasm
Neoplasms, Germ Cell and Embryonal
Oculocerebrorenal Syndrome
Sex Chromosome Aberrations
Autosomal Recessive Polycystic Kidney Disease
Experimental Hepatoma
Renal tubular disorder
Malignant neoplasm of testis
Portal vein thrombosis
Porphyria, Erythropoietic
Pelizaeus-Merzbacher Disease
Liposarcoma, Dedifferentiated
Embryonal Carcinoma
Ganglioglioma
Adult Liver Carcinoma
Congenital diaphragmatic hernia
Multiple tumors
Abnormal fetus
Acute hepatitis
Oculovestibuloauditory syndrome
Congenital hemihypertrophy
Teratoma, Malignant
Hydatidiform Mole, Partial
Intrahepatic Cholangiocarcinoma
Endodermal sinus tumor of ovary
Autoimmune liver disease
Finnish congenital nephrotic syndrome
Benign neoplasm of liver
Liver calculus
Varicella zoster
Metastatic hepatocellular carcinoma
Immunoglobulin deficiency
Congenital omphalocele
trisomy 2
Malignant Testicular Germ Cell Tumor
Denys-Drash Syndrome
Mosaic trisomy 8 syndrome
Sensorimotor neuropathy
Cutaneous Mastocytosis
Hepatoid adenocarcinoma
Nongerminomatous Germ Cell Tumor
Fetal ascites
Congenital exomphalos
Hepatitis B Virus-Related Hepatocellular Carcinoma
Testicular Germ Cell Tumor
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
UV-Sensitive Syndrome
HEMIHYPERPLASIA, ISOLATED
ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF
alpha-Fetoprotein Deficiency
Echogenic Bowel
Meconium ileus
Tumor thrombus
Dysplastic nodule
Oculomotor apraxia
Nephrosis, congenital
Decreased levels of alpha-fetoprotein
Fetal abnormality
Fabry Disease
Aspergillosis, Allergic Bronchopulmonary
Bacterial Endocarditis
Pathological fracture
Gingival Hyperplasia
Gingival Hypertrophy
Hernia
Umbilical hernia
Hoarseness
Mitral Valve Insufficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Spondylolisthesis
Spondylolysis
Lysosomal Storage Diseases
Joint laxity
Pfaundler-Hurler Syndrome
Congenital small ears
Acroparesthesia
Wedging of vertebra
Storage disease
Aspartylglucosaminuria
Congenital Disorders of Glycosylation
Mandibular hyperplasia
Gingival Overgrowth
Class III malocclusion
Delayed bone age
Acne
Neutrophil count decreased
Macroorchidism
Abnormality of amino acid metabolism
Hypoparathyroidism familial isolated
Thick vermilion border
Vacuolated lymphocytes
Thick lower lip vermilion
Beaking of vertebral bodies
Thickened calvaria
Broad face
Hypoplastic frontal sinuses
Full lower lip
mandibular excess (physical finding)
Large face
Aspartylglucosamidase (AGA) deficiency
Mitral regurgitation, mild
ASPARTYLGLUCOSAMINURIA, FINNISH TYPE
Anterior beaking of lumbar vertebrae
Abnormal cortical bone morphology
Abnormality of the ulna
Selective immunoglobulin A deficiency
Hypotrophic frontal sinus
Decreased pneumatization of frontal sinus
Increased thickness of cranium
Rotting teeth
Increased size of the mandible
Hypertrophy of lower jaw
Oral soft tissue hyperplasia
Breaking out
Achondroplasia
Bagassosis
Body Height
Chondroblastoma
Congenital anomaly of cartilage
Chordoma
Arthropathy
Multiple Epiphyseal Dysplasia
Nail Diseases
Osteochondritis Dissecans
Tropical Spastic Paraparesis
Pneumoconiosis
Progeria
Scoliosis, unspecified
Spondylitis
Spondyloepiphyseal Dysplasia
Chondromalacia
Osteoarthrosis, localized, not specified whether primary or secondary
Intervertebral disc disorder
Intervertebral Disc Degeneration
Polyarthritis
Brachydactyly
Lumbar disc disease
Muscular Dystrophy, Facioscapulohumeral
Disk, Herniated
Lyme Arthritis
Growth abnormality
Osteoarthritis of the hand
Barrel chest
Severe myopia
proliferative nephritis unspecified
Osteoarthritis, Knee
Pseudoachondroplasia
Cervical Disc Degenerative Disorder
Short thorax
Broad thumbs
Hypoplasia of thumb
Spondyloepimetaphyseal disorder
Infant length
Genu varum
Mesomelia
Sacroiliitis
Knee joint valgus deformity
growth hormone treatment
Nail abnormality
Proportionate short stature
Spondylarthropathies
Abnormal breathing
Exostoses
Smoking Behaviors
Tendinosis
Respiratory problem
Premature osteoarthritis
Absent nasal bridge
Spondyloepiphyseal Dysplasia, Kimberley Type
Flat capital femoral epiphysis
Developmental stagnation
Relative macrocephaly
Midface retrusion
Low-set, posteriorly rotated ears
Small midface
Spondyloepiphyseal dysplasia, congenita
Kashin-Beck Disease
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Collagenopathy, type 2 alpha 1
Familial Osteochondritis Dissecans
Disorder of Achilles tendon
Hypotrophic midface
Decreased projection of midface
Mucinous Adenocarcinoma
Carotid Artery Diseases
Dermatomyositis
Encephalomyelitis
Hypertrophy
Polycystic Kidney Diseases
Neuronal Ceroid-Lipofuscinoses
Pancreatic Diseases
Pulpitis
Neuralgia, Supraorbital
Thromboangiitis Obliterans
Uremia
Neuralgia, Vidian
Polymyositis
Chronic sinusitis
Malignant tumor of base of tongue
Malignant neoplasm of dorsal surface of tongue
malignant tumor of lingual tonsil
Diabetes, Autoimmune
Embryonal Rhabdomyosarcoma
Reactive systemic amyloidosis
Neuralgia, Atypical
Neuralgia, Stump
Inclusion Body Myositis (disorder)
Erectile dysfunction
Peripheral Nerve Injuries
Reactive perforating collagenosis
Complications of Diabetes Mellitus
Organ dysfunction syndrome
Neuralgia, Perineal
Neuralgia, Iliohypogastric Nerve
Cortical Dysplasia
Malignant tumor of junctional zone of tongue
Malignant neoplasm of border of tongue
Squamous cell carcinoma of skin
Hyperhomocysteinemia
Malignant neoplasm of ventral surface of tongue
Psychoticism
Bacterial oral infection
Neuralgia, Ilioinguinal
Nerve Pain
Paroxysmal Nerve Pain
Foetal damage
Peripheral arterial occlusive disease
Sjogren's Syndrome
Hyperglycemia, Postprandial
Diabetic encephalopathy
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AA amyloidosis
Enophthalmos
Glycogen Storage Disease
Glycogen Storage Disease Type III
Ventricular hypertrophy
Sunken eyes
Broad nasal tip
Malar flattening
Glycogen Storage Disease IIIA
Glycogen Storage Disease IIIB
Glycogen Storage Disease IIIC
Glycogen Storage Disease IIID
Amylo-1,6-glucosidase deficiency
GLYCOGEN STORAGE DISEASE, TYPE IIIb
GLYCOGEN STORAGE DISEASE, TYPE IIIa
Hypotrophic malar bone
Anorexia
Anorexia Nervosa
Central Nervous System Infection
Combat Disorders
Infection by Cryptococcus neoformans
Lipodystrophy
Malaria, Vivax
Thinness
Early syphilis, unspecified
Congenital bilateral aplasia of vas deferens
AIDS defining illness
Bulimia Nervosa
OBESITY, LATE-ONSET
Neurocognitive Disorders
Renal tubular acidosis
AIDS related complex
Aortic coarctation
Arthritis, Psoriatic
Bone Density
Intrahepatic Cholestasis
Prelingual Deafness
Exophthalmos
Eye Abnormalities
Intestinal Neoplasms
Keloid
Mycoses
Neoplasms, Vascular Tissue
Pancreatic Insufficiency
Pulmonary Valve Stenosis
Salivary Gland Neoplasms
Giant Cell Arteritis
Tetralogy of Fallot
Lymphoma, T-Cell, Cutaneous
Alagille Syndrome
Hearing Loss, Extreme
Hepatic necrosis
Macrotia
Corneal Dystrophy, Band-Shaped
Endometrial Stromal Sarcoma
Long narrow head
Renal Cell Dysplasia
Tricuspid Atresia
Congenital hemivertebra
Congenital absence of liver
Congenital hypoplasia of kidney
Microcornea
Axenfeld anomaly (disorder)
Preauricular dimple
Congenital preauricular sinus
Exocrine pancreatic insufficiency
Progressive intrahepatic cholestasis (disorder)
Facies
Giant Cell Glioblastoma
Embryotoxon
Pulmonary Atresia with Intact Ventricular Septum
Peripheral pulmonary artery stenosis
Upward slant of palpebral fissure
Posterior embryotoxon
Preauricular Fistulae, Congenital
Large auricle
Complete Hearing Loss
Serum cholesterol raised
Cardiac defects
Deafness, Acquired
CADASIL Syndrome
Hajdu-Cheney Syndrome
Kaufman-McKusick syndrome
Decreased corneal diameter
Intraductal papillary-mucinous adenoma
Childhood Osteosarcoma
Undifferentiated Gastric Carcinoma
Thyroid Dysgenesis
RENAL ADYSPLASIA
Triangular face
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
Prominent eyes
Short distal phalanx of finger
Abnormality of the ribs
Protruding eyes
Broad forehead
Large pinnae
Alagille Syndrome 2
Prolonged neonatal jaundice
ULNAR HYPOPLASIA
Intrahepatic duct deficiency
Butterfly vertebral arch
Underdeveloped supraorbital ridges
Short ulnae
Prominent globes
Increased hepatocellular carcinoma risk
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Increased incidence of hepatocellular carcinoma
Alagille Syndrome 1
Pulmonary Stenosis
Hepatic ductular hypoplasia
Early-Stage Breast Carcinoma
C1q DEFICIENCY
Renal dysplasia
Bilateral Deafness
Underdeveloped brows
Medullary sponge kidney disease
Reduced number of intrahepatic bile ducts
Multiple small medullary renal cysts
Abnormal nasal morphology
Peripheral arterial stenosis
Deaf Mutism
Turridolichocephaly
Narrow skull shape
Narrow head shape
Narrow cranium shape
Congenital atresia of extrahepatic bile duct
Abruptio Placentae
Adrenal Gland Neoplasms
Alkalosis
Aneurysm, Dissecting
Anuria
Aortic Rupture
Bartter Disease
Blood Pressure
Bronchial Spasm
Cardiomyopathy, Alcoholic
Conn Adenoma
Cushing Syndrome
Sudden death
Nodular glomerulosclerosis
Myocardial rupture
Diaphragmatic Hernia
Primary Hyperoxaluria
Renal hypertension
Hyponatremia
Hypotension, Orthostatic
Infarction
Icterus
Biliary cirrhosis
Meconium Aspiration Syndrome
Mitral Valve Prolapse Syndrome
Necrosis
Nephritis
Nephritis, Interstitial
Nephrosis
Drug Overdose
Peptic Ulcer Hemorrhage
Peutz-Jeghers Syndrome
Pregnancy Complications
Renal Artery Stenosis
Thrombosis
Nephritis, Tubulointerstitial
Oligohydramnios
Thrombus
Sciatic Neuropathy
Hypertensive heart disease
Secondary hypertension
Disease of capillaries
Chronic hypotension
Cicatrix, Hypertrophic
Liddle Syndrome
Diastolic hypertension
Congenital posterior urethral valves
Thrombotic stroke
Cardiovascular Abnormalities
Low-renin essential hypertension
Hypertensive heart failure
Myxoid transformation of mitral valve
Congenital hypoplasia of lung
Allanson Pantzar McLeod syndrome
Potter's facies
Primary hyperoxaluria, type I
Gitelman Syndrome
Isovaleryl-CoA dehydrogenase deficiency
Renal vascular disorder
Inflammatory Breast Carcinoma
Coarctation
Bleeding ulcer
Infarction, Lacunar
Familial sick sinus syndrome
Aortic aneurysm without mention of rupture NOS
Adrenal Cushing's syndrome
Left ventricular dilatation
Prediabetes syndrome
Chronic rejection of renal transplant
Urolithiasis
Maternal hypertension
Neurogenic hypertension
renin induced hypertension
Juxtaglomerular cell hyperplasia
External Carotid Artery Diseases
renin-dependent hypertension
Internal Carotid Artery Diseases
Arterial Diseases, Common Carotid
Hyperphenylalaninaemia
hypertensive nephropathy
Pregnancy associated hypertension
Oestrogen deficiency
Diabetic Cardiomyopathies
Macroangiopathy
Heart Failure, Diastolic
Renal anemia
Glucocorticoid-remediable aldosteronism
Blood pressure finding
Systemic arterial pressure
Multi vessel coronary artery disease
Anti-Basement Membrane Glomerulonephritis
Widely patent fontanelles and sutures
ABLEPHARON-MACROSTOMIA SYNDROME
Influenza A/H5N1
Renal Tubular Dysgenesis With Choanal Atresia And Athelia
Loeys-Dietz Syndrome
Acquired long QT syndrome
Cerebral Small Vessel Diseases
Crigler Najjar syndrome, type 2
Neointima
Neointima Formation
Maternal oligohydramnios
Chronic kidney disease due to hypertension
Familial Hyperaldosteronism
Pseudoprimary hyperaldosteronism
Inflammatory abnormality of the eye
Dissection, Blood Vessel
Abortion, Tubal
Adrenal Rest Tumor
Cerebral Embolism
Erysipelas
Friedreich Ataxia
Placental Insufficiency
Subacute Sclerosing Panencephalitis
Vascular System Injuries
Carcinoma, Lobular
Coronary artery atheroma
Rheumatic disease of heart valve
Very Low Birth Weight
Venous retinal branch occlusion
Polygenic hypercholesterolemia
Pituitary carcinoma
Carcinomatosis of peritoneal cavity
Chronic Kidney Insufficiency
Peritoneal Fibrosis
Persistent cough
Anterior Ischemic Optic Neuropathy
Intraepithelial Neoplasia
Muscular dystrophy congenital, merosin negative
Endometrial Endometrioid Adenocarcinoma
Associated Pulmonary Arterial Hypertension
FRIEDREICH ATAXIA 1
Aortic root dilation
Extranodal marginal zone B-cell lymphoma
Patent Ductus Arteriosus Familial
Symptomatic carotid artery stenosis
Abnormality of vision
Corpus Luteum Cyst
Ovarian Cysts
Low Tension Glaucoma
Premature aging syndrome
Atresia
Mental Retardation, X-Linked
Mental Retardation, X-Linked 1
Megaureter
Lymphatic Metastasis
Postpartum cardiomyopathy
Epiretinal Membrane
Atrioventricular Block
Calcinosis
Dysuria
Subacute Bacterial Endocarditis
Gangrene
Helminthiasis
Hematuria
Hereditary Sensory Autonomic Neuropathy, Type 1
Hyperoxaluria
Kidney Calculi
Nephrocalcinosis
Raynaud Disease
Raynaud Phenomenon
Tooth Loss
Bone pain
Acrocyanosis
Occlusion of artery (disorder)
Isolated cystinuria
Extraosseous Ewings sarcoma-primitive neuroepithelial tumor
Nephrolithiasis
Rare Diseases
Occlusive vascular disease
Decreased glomerular filtration rate
Oxalosis
NEPHROLITHIASIS, CALCIUM OXALATE
Renal failure in adulthood
Atrioventricular nodal disease
Abnormality of circulating enzyme level
Retinal crystals
Increased calcium level in kidney
Calcium oxalate kidney stones
High urine occult blood
Dull burning sensation with urination
Arterial disease of legs
Addison Disease
Tumors of Adrenal Cortex
Adrenal gland hypofunction
Congenital adrenal hyperplasia
Ameloblastoma
Dejerine-Sottas Disease (disorder)
Gonadal Dysgenesis
Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, Mixed
granulosa cell tumor
Gynecomastia
Severe Dengue
Hypoaldosteronism
Oligospermia
Delayed Puberty
Disorders of Sex Development
Addisonian crisis
Decreased fertility in females
Testicular hypogonadism
Hypertrophy of clitoris
Hyperpigmentation
Congenital hypoplasia of adrenal gland
Melanoderma (disorder)
Primary physiologic amenorrhea
Male Pseudohermaphroditism
Low serum estradiol levels
Small testicle
CHARGE Syndrome
Ambiguous Genitalia
Streak ovary
Testicular regression syndrome
Deficiency of glycerol kinase
Hypogonadotropic hypogonadism
Testicular dysgenesis
Malignant Ameloblastoma
Idiopathic hypogonadotropic hypogonadism
X-linked Adrenal Hypoplasia
Small adrenal gland
Familial Testotoxicosis
Hypoplasia of vagina
Primary spermatogenic failure
Adrenal cortical hypofunction
46, XY female
XX males
Pure gonadal dysgenesis
Complex Glycerol Kinase Deficiency
Primary hypogonadism
ACTH-Secreting Pituitary Adenoma
Congenital absence of germinal epithelium of testes
Rudimentary vagina
Penile hypospadias
Hypocortisolemia
Decreased circulating cortisol level
Adrenal hypoplasia
Mineralocorticoid insufficiency
Absence of pubertal development
Renal salt wasting
Female external genitalia in individual with 46,XY karyotype
DOSAGE-SENSITIVE SEX REVERSAL
Contiguous gene syndrome
Sparse pubic hair
Sparse axillary hair
Decreased testosterone in males
Muscle biopsy shows dystrophic changes
Hypoadrenocorticism, familial
Acute colitis
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
Constitutional delay of puberty
46, XX Testicular Disorders of Sex Development
Swyer Syndrome
PACHYONYCHIA CONGENITA 3
Primary Adrenal Insufficiency
Elevated circulating follicle stimulating hormone level
Urogenital sinus anomaly
Sex reversal
Abnormal sex determination
Elevated circulating luteinizing hormone level
Abnormality of the labia
Abnormality of the scrotum
Xp21 Contiguous Gene Deletion Syndrome
46,XY partial gonadal dysgenesis
Amino Acid Metabolism, Inborn Errors
Hydrops Fetalis
Abnormality of the dentition
Congenital disorder of glycosylation type 1A
Tooth problem
Amino Acid Metabolism, Inherited Disorders
Protein C measurement
Vitamin B 6 Deficiency
Protein C antigen measurement
Glycine N-Methyltransferase Deficiency
S-adenosylhomocysteine hydrolase deficiency
Takayasu Arteritis
Arthritis, Adjuvant-Induced
Urinary Bladder Calculi (disorder)
Bone Resorption
Uterine Cervical Neoplasm
Contact Dermatitis
Hyperventilation
Signs and Symptoms, Respiratory
Silicosis
Sleep disturbances
Splenic Diseases
Tobacco Dependence
Tobacco Use Disorder
Ureteral Neoplasms
Tachyarrhythmia
Malignant neoplasm of ureter
Contact hypersensitivity
Angiofibroma
Chronobiology Disorders
Hyperoxia
Chloracne
Chronic nonspecific lung disease
Chronic colitis
Xeroderma Pigmentosum, Complementation Group D
Lung Injury
Atrophic
Growth Hormone-Secreting Pituitary Adenoma
Asthma attack
Chronic superficial gastritis
Nicotine Use Disorder
Papillary neoplasm
Allergy to peanuts
Dyslipoproteinemias
Congenital nystagmus
Ovarian failure
Circadian Rhythm Disorders
Subfertility, Male
Sleep Disorders
Retinoic acid syndrome
Psychogenic Inversion of Circadian Rhythm
Male sterility
Arthritis, Collagen-Induced
Arthritis, Experimental
Familial multiple trichoepitheliomata
Tumor Promotion
Adenocarcinoma, Endometrioid
Malignant transformation
Anemia, Diamond-Blackfan, 2
OVERLAP CONNECTIVE TISSUE DISEASE
Chronic Lung Injury
Pancreatic cancer, adult
Autoimmune arthritis
Tooth Attrition
Familial Mediterranean Fever
Tracheal Diseases
Gestational Diabetes
Claw hand
Alopecia universalis
Tumoral calcinosis
Nevus elasticus
Microcalcification
Sparse scalp hair
Alopecia-Mental Retardation Syndrome 1
Sparse body hair
Perniola Krajewska Carnevale syndrome
Short corpus callosum
Meningoencephalitis
Neuritis
Other specified infantile cerebral palsy
Motor Neuron Disease
Trigeminal Neuralgia, Idiopathic
Secondary Trigeminal Neuralgia
Adenoviral infections
Creutzfeldt-Jakob Disease, Sporadic
HIV-1 infection
Other Creutzfeldt-Jakob disease
Limb ischemia
Albinism, Oculocutaneous
Isochromosomes
Deficiency of adenylate kinase
Lymphoma, Lymphocytic, Intermediate
Chronic hemolytic anemia
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hypogammaglobulinemia
Bare Lymphocyte Syndrome
Chronic otitis media
Reticular dysgenesis
Neutrophil abnormality
Congenital hypoplasia of thymus
Chronic ear infection
De Vaal's syndrome
Severe congenital neutropenia
Impaired T cell function
Thymic hypoplasia or aplasia
Malabsorption
Abnormality of mitochondrial metabolism
Aplasia/Hypoplasia of the thymus
Decreased antibody level in blood
Small thymus
Acute Kidney Tubular Necrosis
Adenovirus Infections
Anemia of chronic disease
Angioid Streaks
Arachnodactyly
Bone neoplasms
Borderline Personality Disorder
Congenital bronchogenic cyst
Cannabis Abuse
Carcinoid Tumor
Bronchioloalveolar Adenocarcinoma
Merkel cell carcinoma
Colonic Polyps
Colon diverticulum anatomic structure
Diverticular disease of colon
Dysgerminoma
Epilepsies, Partial
Extrapyramidal Disorders
pathologic fistula
Goiter
Hamartoma Syndrome, Multiple
Hashish Abuse
Hemangiosarcoma
HTLV-I Infections
Hyperplasia
Palmoplantar Keratosis
Seborrheic keratosis
Leg Length Inequality
leiomyosarcoma
Prolymphocytic Leukemia
Lipoma
Lipomatosis
Luteoma
Lymphadenitis
Lymphangioma
Lymphedema
Waldenstrom Macroglobulinemia
Multiple Endocrine Neoplasia Type 2a
Meningeal Neoplasms
Microstomia
Moderate mental retardation (I.Q. 35-49)
Muscular Atrophy
Mycosis Fungoides
Myxoma
Nervous System Neoplasms
Neurilemmoma
Other specified types of schizophrenia, unspecified
Paget Disease Extramammary
Papilloma
Paraplegia
Periodontitis, Juvenile
Pseudomyxoma Peritonei
Pulmonary Embolism
Shared Paranoid Disorder
Skin tag
Soft Tissue Neoplasms
Compression of spinal cord
synovial sarcoma
Testicular Neoplasms
Thrombophlebitis
Thyroiditis
Fissured tongue
Uterine Neoplasms
Varicocele
Common wart
Xeroderma Pigmentosum
Fibromatosis, Aggressive
Proteus Syndrome
Chronic gastritis
Skin Diseases, Vascular
LEOPARD Syndrome
Fibroadenoma of breast
Meningiomas, Multiple
Mixed Tumor, Mullerian
Liposarcoma, Myxoid
Histiocytoma, Benign Fibrous
SCHIZOPHRENIA 1 (disorder)
Mastocytosis, Systemic
Acanthosis
Syndactyly of fingers
Macrocephaly
Psychiatric symptom
Cannabis-Related Disorder
Xanthomatosis, Cerebrotendinous
Light chain disease
Lymphedema praecox
Anaplastic thyroid carcinoma
Round face
Lymphatic obstruction
Hypoplasia of the maxilla
Open mouth (finding)
Malignant Meningioma
Fibrous skin tumor of tuberous sclerosis
Congenital macrodactylia
Collagen nevus of skin
Congenital anomaly of brain
Congenital pontocerebellar hypoplasia
Stage II Colon Cancer
Malignant neoplasm of colon stage IV
Metastatic Renal Cell Cancer
Stage IV Bladder Cancer AJCC v6
Nasopharyngeal cancer recurrent
Adenosquamous cell lung cancer
Serous cystadenocarcinoma ovary
Cervical Squamous Cell Carcinoma
endometrial adenoacanthoma
stage, non-small cell lung cancer
Leiomyosarcoma of uterus
Benign Meningioma
Prostatic Intraepithelial Neoplasias
Papule
High-Grade Squamous Intraepithelial Lesions
NEVUS, EPIDERMAL (disorder)
Carcinoid tumor no ICD-O subtype
Hidradenoma Papilliferum
Ganglioneuromatosis
Meningothelial meningioma
Fibrous Meningioma
Psammomatous Meningioma
Angiomatous Meningioma
Hemangioblastic Meningioma
Hemangiopericytic Meningioma
Transitional Meningioma
Congenital neutropenia
Acute retention of urine
Malonic aciduria
Ovarian Cystadenoma
Vulval intraepithelial neoplasia
Multiple malignancy
Spinal Meningioma
Carcinoma of anal margin
Squamous cell carcinoma of tongue
Intracranial Meningioma
Lhermitte-Duclos disease
Early infantile epileptic encephalopathy with suppression bursts
Lymphatic Abnormalities
Leukocyte adhesion deficiency type 1
Testicular dysfunction
Aortic valve calcification
Clear Cell Meningioma
Hemimegalencephaly
Xanthomatous Meningioma
Benign neoplasm of eye, unspecified
Neoplasm of uncertain or unknown behavior of ovary
Neoplasm of uncertain or unknown behavior of breast
Benign neurologic neoplasms
Increased drug resistance
Primary sclerosing cholangitis
Costello syndrome (disorder)
Abnormal lung lobation
CNS metastases
Skin carcinoma
Bile duct carcinoma
Multiple lipomata
Biliary Tract Cancer
Cerebral Convexity Meningioma
Parasagittal Meningioma
Recurrent Chronic Lymphoid Leukemia
Rhabdoid Tumor of the Kidney
Breast adenocarcinoma
Advanced cancer
SHORT syndrome
Impaired insulin secretion
Colorectal cancer metastatic
Aortic valve disorder
Pontoneocerebellar hypoplasia
Solitary fibrous tumor
Avellino corneal dystrophy
Mediastinal (Thymic) Large B-Cell Lymphoma
Single tumor
Squamous cell carcinoma of pharynx
Activated B-cell type diffuse large B-cell lymphoma
Intraorbital Meningioma
Intraventricular Meningioma
Mesenchymal Cell Neoplasm
Olfactory Groove Meningioma
Osteogenic Neoplasm
Marginal Zone B-Cell Lymphoma
Sebaceous adenoma
Liposarcoma, well differentiated
Secretory meningioma
Microcystic meningioma
Subcutaneous lipoma
Anal squamous cell carcinoma
Chronic Lymphoproliferative Disorder of NK-Cells
Glioblastoma, IDH-Wildtype
Tumor Expansion
Leukemia, Large Granular Lymphocytic
Angioblastic Meningioma
Posterior Fossa Meningioma
Sphenoid Wing Meningioma
Macular dystrophy, corneal type 1
Rokitansky Kuster Hauser syndrome
Milroy Disease
Hereditary Leiomyomatosis and Renal Cell Cancer
Testicular Hydrocele
Carcinoma of urinary bladder, invasive
Thin bony cortex
Asymmetric overgrowth
Onset of lymphedema around puberty
Disproportionate tall stature
Decreased muscle mass
Vascular abnormalities restricted to skin
Perisylvian syndrome
Progesterone Resistance
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
Prostate Cancer, Hereditary, 7
Round, full face
Facial hyperostosis
Asymmetry of the thorax
Abnormal subcutaneous fat tissue distribution
Progressive macrocephaly
Irregular hyperpigmentation
TUBEROUS SCLEROSIS 2 (disorder)
Spinal canal stenosis
Breast Cancer, Familial Male
Cafe au lait spots, multiple
Brachydactyly type C
Calvarial hyperostosis
SCHIZOPHRENIA 8 (disorder)
Megalencephaly cutis marmorata telangiectatica congenita
Proteus-Like Syndrome (disorder)
Macrocephaly mesodermal hamartoma spectrum
Dermoid choristoma of eye proper
Hypertrophy of skin of soles
Paroxysmal kinesigenic choreoathetosis
Carcinoma Metastatic to the Skin
Leukemia, Natural Killer Cell Large Granular Lymphocytic
PTEN Hamartoma Tumor Syndrome
Generalized hyperkeratosis
COWDEN-LIKE SYNDROME (disorder)
Polyposis, Adenomatous Intestinal
Familial Intestinal Polyposis
Macroencephaly
Opitz GBBB Syndrome, X-Linked
Congenital abnormality of vein
Stage II Colon Cancer AJCC v7
Papillary Meningioma
Roux-en-y Anastomosis Site
Hamartomatous polyposis
Gastrointestinal hamartomatous polyps
COWDEN SYNDROME 6
ESTROGEN RESISTANCE
Increased gastric cancer
Conjunctival hamartoma
Mucosal telangiectasiae
Upper limb asymmetry
Depigmentation/hyperpigmentation of skin
Ovarian papillary adenocarcinoma
Hereditary nonpolyposis colorectal carcinoma
Mandibular hyperostosis
Abnormality of the penis
ROSE Cluster 1
Maxillary retrognathia
Noncancerous mole
Increased ossification of facial bones
Hypertrophy of facial bones
Enlargement of facial bones
Increased ossification of calvarial bones
Enlargement of calvarial bones
Thick lower jaw bone
Excessive growth of mandibular bone
Increased ossification of lower jaw
Retrusion of upper jaw bones
Hypotrophic maxilla
Deficiency of upper jaw bones
Decreased projection of maxilla
Infantile hemangioma
Acanthosis Nigricans
Hypoglycemic coma
Oligomenorrhea
Neonatal hypoglycemia
Acquired partial lipodystrophy
Familial partial lipodystrophy
Hypertrophy of tonsils
Obesity, Abdominal
Benign tumor of pancreas
Insulin-resistant diabetes mellitus
Hypoglycemic seizures
Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 3
Increased intraabdominal fat
Decreased serum leptin
Large for gestational age
INSULIN RESISTANCE, SUSCEPTIBILITY TO
Increased hepatic glycogen content
Hypoketotic hypoglycemia
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST
Decreased adiponectin level
Abnormal circulating insulin level
Lead Poisoning
Paresthesia
Pelger-Huet Anomaly
Phobia, Social
Disorders of Porphyrin Metabolism
Respiratory Paralysis
Porphyrias, Hepatic
Acute intermittent porphyria
Abdominal colic
Dyschezia
Porphobilinogen synthase deficiency
Tyrosinemias
Generalized Anxiety Disorder
Essential Tremor
Genitourinary Cancer
Lead Poisoning, Nervous System
Elevated urinary delta-aminolevulinic acid
Very rare
LEAD POISONING, SUSCEPTIBILITY TO
PORPHYRIA, ACUTE HEPATIC, DIGENIC
Erythropoietic Protoporphyria
Hyperbilirubinemia, Hereditary
Mucopolysaccharidosis VI
Pallor
Ataxia, Spinocerebellar
Thalassemia Intermedia
Pyridoxine-responsive sideroblastic anemia
Acute exacerbation of chronic obstructive airways disease
Photosensitivity of skin
Sleep Apnea, Central
Chronic anemia
Cockayne Syndrome, Type I
Refractory anemia with ringed sideroblasts
Childhood onset
Protoporphyria, Erythropoietic, X-Linked Dominant
Refractory anemia with ring sideroblasts associated with marked thrombocytosis
Increased erythrocyte protoporphyrin concentration
Abnormality of iron homeostasis
Macrocytic dyserythropoietic anemia
Angioedema
Balkan Nephropathy
Coronary Aneurysm
Crigler Najjar syndrome, type 1
Dentinogenesis Imperfecta
DiGeorge Syndrome
Pituitary dwarfism
Echinococcosis
Esophageal Varices
Focal Dermal Hypoplasia
Glomerulonephritis, Membranoproliferative
Hemoglobinuria
HIV Seropositivity
Hyperlipoproteinemia Type IV
Delayed Hypersensitivity
Hyperthyroxinemia
Kwashiorkor
Lymphohistiocytosis, Hemophagocytic
Aseptic Meningitis
Mumps
Myotonic Dystrophy
Occupational Diseases
Protein-Energy Malnutrition
Refsum Disease
Rhinitis, Allergic, Perennial
Serum Sickness
Stomatitis
Thyroid Diseases
Hepatitis E
Plasmacytosis
Sicca Syndrome
Pleocytosis
Hemangioblastoma
dysproteinemia
Autonomic neuropathy
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
Membranoproliferative Glomerulonephritis, Type I
Membranoproliferative Glomerulonephritis, Type II
Acute viral hepatitis
Hemorrhagic Fever, Ebola
Focal Nodular Hyperplasia
Adenocarcinoma, metastatic
Mixed Germ Cell Tumor
Hyperthyroxinemia, Familial Dysalbuminemic
Danish type familial amyloid cardiomyopathy
Asymptomatic human immunodeficiency virus infection
Malignant neoplasm of adrenal cortex
Group B streptococcal pneumonia
Plasma cell inflammation
Headache associated with sexual activity
Microalbuminuric diabetic nephropathy
Moderate nonproliferative diabetic retinopathy
End Stage Liver Disease
Hereditary Motor and Sensory Neuropathy Type I
Analbuminemia
Dent's disease
Polyradiculitis
Hepatic infection
Pleuropulmonary blastoma
Acral pseudolymphomatous angiokeratoma of children (APACHE)
Lymphoproliferative Disorder of the Skin
Cholangiolocellular Carcinoma
Smoldering myeloma
Oral Mucositis
Nephrotic Syndrome, Minimal Change
Osteoblastic Osteosarcoma
Heymann Nephritis
Membranoproliferative Glomerulonephritis, Type III
Conjunctival hyperemia
Hypoproteinemia, Hypercatabolic
Dysalbuminemic Hyperthyroxinemia
Parvovirus B19 (disease)
Fetal anemia
Macroalbuminuric diabetic nephropathy
Dysferlinopathy
POLYCYSTIC KIDNEY DISEASE 1
HEMOCHROMATOSIS, TYPE 1
Duchenne and Becker Muscular Dystrophy
Acute inflammatory demyelinating polyneuropathy
Autosomal Recessive Primary Microcephaly
Isolated somatotropin deficiency
ANALBUMINEMIA BAGHDAD
Mixed Salivary Gland Tumor
Intrinsic asthma
Mucoepidermoid Carcinoma
Neoplasms, Neuroepithelial
Chondromyxoid fibroma
Carpal Tunnel Syndrome
Diffuse Cerebral Sclerosis of Schilder
Demyelinating Diseases
Endocrine System Diseases
Fecal Incontinence
Paraparesis, Spastic
Spastic Paraplegia
Paraparesis
Spastic gait
Slurred speech
Leukoencephalopathies
Dysfunction adrenal
Adrenomyeloneuropathy
Urinary bladder sphincter dysfunction
Contiguous Abcd1-Dxs1375e Deletion Syndrome
Elevated long chain fatty acids
Autoimmune Primary Adrenal Insufficiency
Mitochondrial abnormalities
Neuro-degenerative disease
Basal Cell Nevus Syndrome
Hemorrhagic cystitis
Sarcoma, Epithelioid
stage, prostate cancer
New Variant Creutzfeldt-Jakob Disease
alcohol effect
Creutzfeldt-Jakob Disease, Familial
Oculo-dento-digital syndrome
Micropapillary carcinoma
Fibromyxosarcoma
Agranulocytosis
Alcohol Withdrawal Delirium
Heart Rupture, Traumatic
Drinking behavior processes
Heart Injuries
Melanosis
Hangover from any Alcohol or Other Drugs substance
Melanosis coli
Alcohol-Induced Disorders
Cyanotic congenital heart disease
Mixed anxiety and depressive disorder
Multiple lacunar infarcts
Serum gamma-glutamyl transferase measurement
Primary Carcinoma
CHLORPROPAMIDE-ALCOHOL FLUSHING
HANGOVER, SUSCEPTIBILITY TO (finding)
ALCOHOL SENSITIVITY, ACUTE
SUBLINGUAL NITROGLYCERIN, SUSCEPTIBILITY TO POOR RESPONSE TO
ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO
MYOTONIC DYSTROPHY 1
Chronic Total Occlusion Vessel
response to alcohol
Delayed oxidation of acetaldehyde
Facial flushing after alcohol intake
Injury of cornea
Corneal Scar
Bilateral cataracts (disorder)
Pseudoaphakia
Anophthalmos
Choanal Atresia
Hypoplasia of the optic nerve
Developmental delay (disorder)
MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 8
Meckel syndrome type 1
Decreased size of eyeball
Abnormally small eyeball
Hallucinations
Paranoid Schizophrenia
Dental Enamel Hypoplasia
Hydrocephalus, Normal Pressure
Congenital Nonbullous Ichthyosiform Erythroderma
Ichthyosiform Erythroderma, Congenital
Papillomatosis
Streptococcal lymphadenitis of swine
Corneal erosion
Renal dysplasia and retinal aplasia (disorder)
Apraxia, oculomotor, Cogan type
Thoracic kyphosis
Opacification of the corneal epithelium
Thin dental enamel
Ethylmalonic encephalopathy
Generalized hyperpigmentation
Dysplasia of tooth enamel
Defective enamel matrix
Acne Vulgaris
Zellweger Syndrome
Normocytic anemia
Normochromic anemia
Glycogen Storage Disease XII
Spondylarthritis
Nonspherocytic hemolytic anemia
Acidosis, Lactic
Hereditary fructose intolerance syndrome
Gastrointestinal Hemorrhage
Glycosuria
Hypophosphatemia
Disorder of carbohydrate metabolism
Hepatitis, Autoimmune
Hyperphosphaturia
Renal Tubular Acidosis, Type II
Lactic acidemia
Urine phosphorous concentration above normal
Hyperuricosuria
Liver and Intrahepatic Bile Duct Epithelial Neoplasm
Liver and Intrahepatic Bile Duct Neoplasm
Proximal tubulopathy
Bicarbonaturia
Failure to thrive in infant
Transient aminoaciduria
Adrenal Gland Diseases
Diabetic cataract
Galactosemias
Intestinal Diseases
Other cataract
Sensory neuropathy
Endometriosis of ovary
Diabetic oculopathy
Diabetic peripheral neuropathy
Ovarian adenocarcinoma
Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
Potassium Deficiency Disorder
Induced Cataract
Bowel dysfunction
Stickler syndrome, type 1
Adjustment Disorders
Amputation Stumps
Carcinosarcoma
Ganglioneuroma
Granuloma, Plasma Cell
Hirschsprung Disease
Malignant histiocytosis
Hypersplenism
Angioimmunoblastic Lymphadenopathy
Krukenberg Tumor
Mastocytosis
Neoplasm Recurrence, Local
Embryonal Neoplasm
Pleural Diseases
Pleural effusion disorder
Pneumothorax
Plasma Cell Granuloma, Pulmonary
Nodular Sclerosis Classical Hodgkin Lymphoma
Benign neoplasm of thyroid gland
Lymphomatoid Papulosis
Adenosquamous carcinoma
Pulmonary Blastoma
Leiomyomatosis
Carcinoma, Giant Cell
Ganglioneuroblastoma
Childhood Non-Hodgkin Lymphoma
Meningeal Carcinomatosis
Thoracic lymphadenopathy
Hodgkin's-like
Sickle cell nephropathy
Elevated urinary catecholamines
Disorder of pericardium
Childhood Medulloblastoma
Malignant Childhood Neoplasm
Non-small cell lung cancer metastatic
Bladder Adenocarcinoma
cystic disease
Multiple polyps
Pleomorphic carcinoma
Lymphoepithelial carcinoma
Neurocysticercosis
Atypical fibroxanthoma of skin
Malignant Mesothelioma of Peritoneum
Secondary malignant neoplasm of spinal cord
Gastric lymphoma
Benign neoplasm of brain, unspecified
Recurrent Brain Neoplasm
Primary malignant neoplasm of brain
Smoker's lung
Anaplastic large cell lymphoma T- and null-cell types refractory
Non-small cell carcinoma
Bronchiolo-alveolar carcinoma, non-mucinous
Primary Cutaneous Anaplastic Large Cell Lymphoma
Blastic plasmacytoid dendritic cell neoplasm
Primary cutaneous lymphoma
Anaplastic large B-cell lymphoma
Anaplastic large cell lymphoma, ALK negative
Anaplastic Large Cell Lymphoma, ALK-Positive
Adult Anaplastic Large Cell Lymphoma
Benign Soft Tissue Tumor of Uncertain Differentiation
Childhood Anaplastic Large Cell Lymphoma
ALK positive large B-cell lymphoma
Gastric Inflammatory Myofibroblastic Tumor
Inflammatory pseudotumor of liver
Neuroblastic tumors
Ovarian Serous Adenocarcinoma
Pleural Carcinomatosis
Spindle Cell Neoplasm
Urinary Bladder Inflammatory Myofibroblastic Tumor
Stromal sarcoma
Primary Lesion
Prostate Stromal Proliferation of Uncertain Malignant Potential
Low grade myofibroblastic sarcoma
Lung Sarcomatoid Carcinoma
MESOMELIC DYSPLASIA, KANTAPUTRA TYPE
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
Granulocyte Colony Stimulating Factor Measurement
Neural crest tumor
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
Plasmablastic lymphoma
Secondary malignant neoplasm of ovary
Familial Neuroblastoma
Congenital neuroblastoma
Lepidic Predominant Adenocarcinoma
Chemical Burns
Pyruvate Carboxylase Deficiency Disease
Vitelliform Macular Dystrophy
Becker Muscular Dystrophy
Acute Myeloid Leukemia with Myelodysplasia-Related Changes
Asthma, Exercise-Induced
Drug Eruptions
Enterocolitis
Fractures, Closed
Lyme Disease
Multiple Organ Failure
Other specified forms of pleural effusion, except tuberculous
Adenoma, Basal Cell
Adenoma, Microcystic
Adenoma, Monomorphic
Papillary adenoma
Adenoma, Trabecular
Skin callus
Endotoxemia
Morbilliform Drug Reaction
Fractures, Occult
Forgetful
ASA intolerant asthma
Intrauterine infection
Pancreatic intraepithelial neoplasia
Asthma, Aspirin-Induced
Moderate persistent asthma
Dental Plaque
Scleroderma
Neoplasms, Radiation-Induced
Hypohidrosis
Hypotrichosis
Keratitis
Hyperkeratosis, Epidermolytic
Erythrokeratoderma
Paralysed
Diminished sweating
Stretched skin
Sparse hair
Everted lower lip vermilion
External genital hypoplasia
Self-Healing Collodion Baby
ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1
Abnormality of the helix
Thin, sparse hair
Protruding lower lip
Hypergranulosis
Ichthyosis Congenita II
Collodion Fetus
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
Lack of skin elasticity
Leukostasis
Peritonitis
Alveolar Bone Loss
Metabolic Bone Disorder
Fetal Death
Foot Deformities
Fractures, Multiple
Heat Stroke
Hypercalcemia
Hyperostosis
Hypophosphatasia
Osteomalacia
Pulmonary Eosinophilia
Rickets
Vitamin B6 measurement
Childhood hypophosphatasia (disorder)
Abnormality of the skull
Precocious exfoliation of primary tooth
Infantile hypophosphatasia
Adult hypophosphatasia (disorder)
Hypochondroplasia (disorder)
Deformity of bone
Short ribs
Beading of ribs
Short leg
Hereditary pyropoikilocytosis
Blue sclera
Calcium pyrophosphate deposition disease
Stillbirth
Chromosome 1, monosomy 1p
Increased susceptibility to fractures
Varying degree of multiple fractures
Decreased calvarial ossification
Metaphyseal cupping
ODONTOHYPOPHOSPHATASIA (disorder)
Disproportionate short-limb short stature
Skin dimple over apex of long bone angulation
Vertebral clefting
Low alkaline phosphatase
Unossified vertebral bodies
CAMPOMELIC DYSPLASIA
Premature loss of permanent teeth
Hypophosphatasia, Perinatal Lethal
Increased fracture rate
Frequent fractures
Abnormality of the voice
Elevated plasma pyrophosphate
Elevated urine pyrophosphate
Esophagitis
Pleomorphic Lipoma
Scaphycephaly
Spastic syndrome
Metopic synostosis
Microscopic Polyarteritis
Waardenburg Syndrome
Lymphatic Diseases
Poland Syndrome
Polydactyly
Contracture of joint of hand
Craniofrontonasal dysplasia
Congenital clinodactyly
Bifid nasal tip
Ulnar polydactyly of fingers
Midline facial cleft - Tessier cleft 0
Congenital Camptodactyly
Lipoma of corpus callosum
Indolent Non-Hodgkin Lymphoma
Widely-spaced maxillary central incisors
Radial deviation of finger
Central incisor gap
Median cleft lip
Anterior basal encephalocele
Median cleft palate
Frontal cutaneous lipoma
Widow's peak
Preauricular skin tag
PARIETAL FORAMINA
Frontonasal dysplasia
Notched nasal tip
Pectoral muscle hypoplasia/aplasia
Skin tag on the posterior cheek
Diastema between maxillary central incisors
Curvature of digit
Amelogenesis Imperfecta
Odontogenic Tumors
Adenoameloblastoma
Amelogenesis imperfecta local hypoplastic form
Squamous odontogenic tumor
Dental enamel pits
Abnormality of dental color
AMELOGENESIS IMPERFECTA, TYPE IF
Endocarditis
Melioidosis
Sepsis due to urinary tract infection
Asymptomatic bacteriuria
Infective cystitis
Intraabdominal Infections
paranasal sinus and nasal cavity cancer
Cutis Laxa
Retinal Drusen
Cutis Laxa, Autosomal Recessive, Type I
Central blindness
Hard drusen
Anterior open bite
Other hypoparathyroidism
Amelogenesis Imperfecta hypomaturation type
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1
Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth
Decreased size of teeth
Decreased width of tooth
Dentin Dysplasia
Odontogenesis Imperfecta
Hereditary disturbances in tooth structure, not elsewhere classified in ICD10CM
Shell teeth
Anovulation
Benign Ovarian Neoplasm
Cholemia
Pseudohermaphroditism
Urologic Diseases
Ovarian Hyperstimulation Syndrome
Gonadoblastoma
Streak gonad
Classical galactosemia
Reifenstein Syndrome
Isosexual precocious puberty
Mullerian inhibiting factor deficiency
stage, ovarian epithelial cancer
Anovulatory (finding)
Congenital absence of both testes
Penis agenesis
Ovarian Insufficiency
Female Urogenital Diseases
Persistent Mullerian duct syndrome
Intersex Conditions
PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I
Abnormality of male internal genitalia
Cri du chat
Autoimmune oophoritis
Testicular Feminization
Ovarian Granulosa Cell Tumor
PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II
Muscle Cramp
Muscle Fatigue
Acute heart failure
Muscle AMP deaminase deficiency
Metabolic myopathy
Exercise-induced muscle fatigue
Adenosine monophosphate deaminase deficiency
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
Increased muscle fatiguability
Ventilatory Threshold
Underweight
Blindness, Cortical
Gait, Scissors
Narrow forehead
Weight less than 3rd percentile
Facial hypotonia
Short upper lip
Muscular hypotonia of the trunk
Abnormality of the periventricular white matter
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE
Central visual impairment
PONTOCEREBELLAR HYPOPLASIA, TYPE 9
Hypotonic facies
Cortical visual impairment
Atony of facial musculature
Glycogen Storage Disease Type VII
Erythrocyte Amp Deaminase Deficiency
Stiff-Person Syndrome
Myopathy, Centronuclear, Autosomal Recessive
Autoimmune Diseases of the Nervous System
Rhabdoid Tumor
Congenital Myotonic Dystrophy
Dysphonia
Hiccup
Impulsive Behavior
Hyperlipoproteinemia Type I
Hyperglycinemia
Hyperglycinemia, Transient Neonatal
Hyperglycinemia, Nonketotic, Type I
Hyperglycinemia, Nonketotic, Type II
Impulsive character (finding)
Recurrent singultus
Hyperglycinemia, Nonketotic, Type III
Nonketotic Hyperglycinemia
Restlessness
Hyperamylasemia
Fragile X chromosome
Acute-Phase Reaction
Pterygium
Rickettsia Infections
Spotted Fever Group Rickettsiosis
Xerostomia
Mood swings
Lateral Sclerosis
Alveolar Soft Part Sarcoma
Hypertrophic disorder of skin, unspecified
Venous malformation
Obstructive chronic pancreatitis
chromosome 11q duplication syndrome
Chronic synovitis
Gout acute
Amyotrophic Lateral Sclerosis 9
Fatigable weakness of respiratory muscles
Fatigable weakness of swallowing muscles
Carcinoma in Situ
Pathologic Neovascularization
Skin Ulcer
McCune-Albright Syndrome
Chronic myocardial ischemia
AIDS with Kaposi's sarcoma
Extramedullary Plasmacytoma
Focal nodular hyperplasia of liver
Femoral artery occlusion
Macrophage Activation Syndrome
Autonomic nervous system disorders
Pulmonary arterial hypertension associated with portal hypertension
Cavernous Hemangioma of Brain
Corneal Neovascularization
Caroli Disease
Impotence, Vasculogenic
Anaplastic Oligodendroglioma
Capillary Leak Syndrome
Primary cutaneous B-cell lymphoma
Well Differentiated Pancreatic Endocrine Tumor
Telangiectatic focal nodular hyperplasia
Hereditary spherocytosis
Hypoalgesia
Reticulocytosis
Anemia, hereditary spherocytic hemolytic
Calcium Pyrophosphate Dihydrate Deposition
Schwartz-Lelek syndrome
Congenital ear anomaly NOS (disorder)
Familial chondrocalcinosis
Red cell distribution width determination
Human anaplasmosis due to Anaplasma phagocytophilum
Spherocytosis
Spinocerebellar Ataxia Type 5
Calcium pyrophosphate arthropathy
RDW - Red blood cell distribution width result
DEAFNESS-HYPOGONADISM SYNDROME
Abnormality of the outer ear
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
Coronary Microvascular Disease
SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE
Abnormality of the hypothalamus-pituitary axis
8p11.2 deletion syndrome
beta Thalassemia
Long QT Syndrome
Romano-Ward Syndrome
Sinus bradycardia
Prolonged QT interval
Linear atrophy
Sinus Node Dysfunction (disorder)
Brugada Syndrome (disorder)
Andersen Syndrome
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
Channelopathies
Long Qt Syndrome 4
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
Bruxism
Cyclothymic Disorder
Neuroma
Anhedonia
Petit mal status
Grand Mal Status Epilepticus
Common Migraine
Complex Partial Status Epilepticus
Status Epilepticus, Subclinical
Non-Convulsive Status Epilepticus
Simple Partial Status Epilepticus
MAJOR AFFECTIVE DISORDER 2
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 6
MAJOR AFFECTIVE DISORDER 7
MAJOR AFFECTIVE DISORDER 8
MAJOR AFFECTIVE DISORDER 9
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37
Abnormality of brain morphology
Parapsoriasis
ACUTE ALCOHOL WITHDRAWAL
Hypertrophy of kidney
Epidemic diarrhea
Brucella melitensis infection
Oncocytoma, renal
Atrophy of corpus callosum
X-Linked Emery-Dreifuss Muscular Dystrophy
Chromosome 8, monosomy 8p
Sucrase-isomaltase deficiency, congenital
Mature T ALL
Nephronophthisis, familial juvenile
Retinoic acid - acute promyelocytic leukemia syndrome
Hypoadiponectinemia
Mixed phenotype acute leukemia B/myeloid
Enterovirus Infections
Kearns-Sayre syndrome
External Ophthalmoplegia
MERRF Syndrome
Chronic progressive external ophthalmoplegia
Impaired exercise tolerance
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Cataract and cardiomyopathy
Protein Misfolding Disorders
Ragged-red muscle fibers
Multiple mitochondrial DNA deletions
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
Cytochrome C oxidase-negative muscle fibers
Subsarcolemmal accumulations of abnormally shaped mitochondria
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT
Hurthle Cell Tumor
Oncocytic Neoplasm
Oxyphilic Adenoma
Carotid Stenosis
Ependymoma
Mycobacterium Infections
Psychomotor Performance
Stomach Diseases
Malignant neoplasm of body of stomach
Malignant tumor of lesser curve of stomach
Malignant tumor of greater curve of stomach
Malignant neoplasm of penis
Squamous cell carcinoma of penis
Acute peritonitis
Breast cancer recurrent
Transitional Cell Neoplasm
Penis carcinoma
High-Grade Prostatic Intraepithelial Neoplasia
Oligodendroglial Neoplasm
X-Linked Lissencephaly
Bladder pain syndrome
Hemorrhagic Disorders
Leprosy
Mycoplasma Infections
Bone necrosis
Thrombosis of cerebral veins
Malignant neoplasm of nasopharynx
Cancer of Nasopharynx
Vagina Carcinoma
Squamous cell carcinoma of tonsil
Asthma chronic
Pancreatic Intraepithelial Neoplasia-1
Keratoconus posticus circumscriptus
Bare lymphocyte syndrome 2
Acute monocytic/monoblastic leukemia
Infant Acute Lymphoblastic Leukemia
Libman-Sacks Disease
Gastrointestinal tract vascular insufficiency
Nonspecific urethritis
Ovarian Clear Cell Adenocarcinoma
Columnar Cell Change of the Breast
Vascular insufficiency of intestine
Polyendocrinopathies, Autoimmune
Borderline tuberculoid leprosy
5q-syndrome
Myelodysplastic Syndrome with Isolated del(5q)
Chromosome 5, trisomy 5q
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
Thrombophilia, hereditary
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3
Progressive supranuclear palsy
Malignant ascites
Mandibulofacial Dysostosis
Vascular Neoplasms
Pulmonary lymphangioleiomyomatosis
Teratozoospermia
COLORBLINDNESS, PARTIAL, DEUTAN SERIES
Chronic lymphocytic leukaemia refractory
Surfactant protein D measurement
Adult type dermatomyositis
Sarcoid myopathy
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
Xanthinuria, Type I
Chlamydia Infections
Congenital clubfoot
Fetal Distress
Retinal Detachment
Skin Abnormalities
Nevi and Melanomas
Lysinuric Protein Intolerance
Nodular melanoma
Retinal Pigment Epithelial Detachment
Lymphocytic infiltration
Intelligence
Memory dysfunction
Smell Perception
Abscess
Benign neoplasm of colon
Hereditary Nonpolyposis Colorectal Neoplasms
Duodenal Diseases
Epithelial cyst
Peptic Esophagitis
fibroma
Fibromatosis
Gardner Syndrome
Hyperparathyroidism
Intestinal Polyps
keratoacanthoma
Neoplastic Syndromes, Hereditary
Odontoma
Parathyroid Neoplasms
Rectal Diseases
Rectal polyp
Ileal Pouches
Gastric adenoma
Adenocarcinoma of rectum
Malignant neoplasm of duodenum
Malignant tumor of extrahepatic bile duct
Malignant neoplasm of other specified sites of female breast
Benign neoplasm of stomach
Carcinoma in situ of stomach
Radioulnar Synostosis
Medullomyoblastoma
Fibromatosis, Abdominal
Adenoma, Villous
Acinar Cell Carcinoma
Carcinoma, Neuroendocrine
Carcinoma, Signet Ring Cell
Pilomatrixoma
Juvenile polyp
Polyposis, Gastric
Carcinoma of extrahepatic bile duct
Cyst of skin
Protein S Deficiency
Carcinoma of ampulla of Vater
Carotid artery occlusion
Turcot syndrome (disorder)
Syndactyly of the toes
Micronodular cirrhosis
Non-small cell lung cancer stage I
Adenocarcinoma of small intestine
Adenocarcinoma of duodenum
Adult Medulloblastoma
Anal carcinoma
Acinar cell carcinoma of pancreas
Cervical Adenocarcinoma
Testicular yolk sac tumour
Lupus anticoagulant disorder
Congenital hypertrophy
Hamartomatous polyp
Fibrolamellar Hepatocellular Carcinoma
Malignant odontogenic tumor
Malignant myoepithelioma
Congenital hypertrophy of retinal pigment epithelium
Intestinal Cancer
Polyp of duodenum
Malignant Central Nervous System Neoplasm
Early gastric cancer
Thalidomide embryopathy syndrome
Neoplasm of uncertain or unknown behavior of stomach
Mucous membrane hyperplasia
Duodenal Cancer
Myxoid/Round Cell Liposarcoma
Duodenal polyposis
Activated Protein C Resistance
Gastro-esophageal reflux disease with esophagitis
Sentinel node (disorder)
Congenital hypoplasia of radius
Parathyroid Gland Adenocarcinoma
Gastrointestinal polyps
Desmoplastic Medulloblastoma
Microphthalmia, syndromic 1
Fundic gland polyp
Intestinal adenocarcinoma
Venoocclusive disease
Basaloid squamous cell carcinoma
Traditional Serrated Adenoma
Eccrine porocarcinoma
Melanotic medulloblastoma
Primary malignant neoplasm of ovary and other uterine adnexa
Blood in stool
Gastric Cardia Adenocarcinoma
Mucinous neoplasm
Medulloblastoma with extensive nodularity
Nasopharyngeal Angiofibroma
ADENOMAS AND ADENOCARCINOMAS
Gardner Fibroma
Synostosis of carpal bones
Radial ray hypoplasia
Absent fingernail
Absent toenail
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME
Desmoid disease, hereditary
COLORECTAL CANCER, SUSCEPTIBILITY TO
Syndactyly Cenani Lenz type
Subacute progressive viral hepatitis
Polyposis Of Gastric Fundus Without Polyposis Coli
Adenomatous colonic polyposis
Small intestine carcinoid
Juvenile Polyposis Coli
Aberrant Crypt Foci
BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder)
ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
Desmoid Tumor Caused By Somatic Mutation
Poroma
Treatment related leukaemia
Chronic ulcerative colitis
Clinical sepsis
MUTYH-Associate Polyposis
Breast cancer, lobular
Extrahepatic Cholangiocarcinoma
Abnormality of the abdominal wall
Abnormality of the musculature
Abnormality of the metacarpal bones
Hyperplastic colonic polyposis
Ovarian Microcystic Stromal Tumor
Medulloblastoma, WNT-Activated
Agammaglobulinemia
Alkaptonuria
Cutaneous Candidiasis
Oral candidiasis
Candidiasis of vagina
Dysgammaglobulinemia
Escherichia coli Infections
Infectious Mononucleosis
Prolactinoma
Systemic candidiasis
Amyloid Neuropathies
MYOCARDITIS, ACTIVE
Hantavirus Infections
Systemic amyloidosis
Amyloid nephropathy
Localized amyloidosis
Primary Systemic Amyloidosis
X-Linked Lymphoproliferative Disorder
Immune-complex glomerulonephritis
Foreign body giant cell granuloma
Lymphoproliferative Syndrome, X-Linked, 2
Acquired Hypogammaglobulinemia
Hemophagocytic Syndrome
Alopecia Areata
Autoimmune state
Candidiasis, Chronic Mucocutaneous
Mucocutaneous candidiasis
Shigella Infections
Guillain-Barre Syndrome
Hypoparathyroidism
Keratoconjunctivitis
Keratoconjunctivitis Sicca
Polyglandular Type I Autoimmune Syndrome
Autoimmune Syndrome Type II, Polyglandular
Female hypogonadism syndrome
Addison's disease due to autoimmunity
Autoimmune hypoparathyroidism
Recurrent herpes simplex
Capillary malformation (disorder)
Idiopathic Hypoparathyroidism
Congenital absence of spleen
hepatitis immune
Chronic candidiasis
Polyglandular Type III Autoimmune Syndrome
Adrenal hyperplasia
Polyglandular Deficiency Syndrome, Persian-Jewish Type
Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA
Autoimmune polyendocrinopathy syndrome, type 1
Abnormality of the fingernails
Abnormality of calcium-phosphate metabolism
Increased circulating cortisol level
Keratosis
Smooth Muscle Tumor
Intraocular retinoblastoma
Amnesia, Transient Global
Ocular albinism, type I
Environmental Carcinogenesis
Pediatric Intraocular Retinoblastoma
Salivary Gland Pleomorphic Adenoma
Childhood Ependymoma
Motor neuron atrophy
Borrelia Infections
Condylomata Acuminata
Hyperhidrosis disorder
Stereotyped Behavior
Stereotypic Movement Disorder
Sweating
Pulmonary Infiltrate
Bowenoid papulosis
Richter's syndrome
Splenic Marginal Zone B-Cell Lymphoma
Low grade B-cell lymphoma
Malignant melanoma of eye
Increased sweating
Gastrointestinal lymphoma
Chromosome 12, 12p trisomy
Acute and chronic colitis
Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
Primary Lung Lymphoma
Colorectal Lymphoma
Abnormality of B cells
Erythema Nodosum
Periodic fever
Hepatic Encephalopathy
Sprains and Strains
IgG Deficiency disorder
Pelvic Inflammatory Disease
Xeroderma pigmentosum, group A
Human immunodeficiency virus II infection
Fulminant hepatitis
Post-transplant lymphoproliferative disorder
Carcinoma testes
Recurrent pharyngitis
Hereditary Autoinflammatory Diseases
Reduced natural killer cell activity
Increased IgM level
MELORHEOSTOSIS, ISOLATED
Immunoglobulin G subclass deficiency (finding)
Oral Submucous Fibrosis
Squamous Cell Neoplasms
Malignant neoplasm of stomach stage IV
Childhood Malignant Peripheral Nerve Sheath Tumor
Neuroepithelial, Perineurial, and Schwann Cell Neoplasm
Carcinoma of urinary bladder, superficial
Thyroid Lymphoma
Pigmented lesions
Painful Bladder Syndrome
malignant neoplasm of breast staging
Neurofibromatosis, Type 3, mixed central and peripheral
Influenza due to Influenza A virus subtype H1N1
Carotid Artery Thrombosis
Hyperopia
Cerebral Thrombosis
Spinocerebellar Ataxia Type 7
Arcus Senilis
Arthritis, Gouty
Bowen's Disease
Gall Bladder Diseases
Hyperlipoproteinemia Type III
Hypobetalipoproteinemias
Major depression, single episode
Anasarca
Recurrent major depressive episodes
Amyloid Neuropathies, Familial
Primary amyloidosis
Amyloidosis, familial visceral
Senile cardiac amyloidosis
Amyloid Polyneuropathy, British Type (disorder)
Cholesteryl Ester Transfer Protein Deficiency
Cardiac Death
Nodular amyloidosis
Primary infertility
Amyloidosis, Familial
Chylomicron retention disease
Nuchal bleb, familial
Perianal Squamous Intraepithelial Neoplasia
Kidney damage
Hereditary cardiac amyloidosis
Ataxia with vitamin E deficiency
Generalized amyloid deposition
Pyloric Stenosis, Infantile Hypertrophic 1
obsolete Combined hyperlipidemia
HYPERALPHALIPOPROTEINEMIA 1
Familial hyperalphalipoproteinemia
Periodic Fever Syndrome
XANTHELASMAS, PERIORBITAL
AMYLOIDOSIS, CARDIAC AND CUTANEOUS
Hereditary systemic amyloidosis
Adolescent Obesity
Childhood Overweight
Atherogenic dyslipidaemia
Erythrocytosis due to low atmospheric pressure
Ferritin measurement
Angina Pectoris
Bile Duct Neoplasms
Bulimia
Chylous Ascites
Erythroid hyperplasia
Heart murmur
Malabsorption Syndrome
Retinal Degeneration
Riboflavin Deficiency
Spina Bifida Cystica
Lentivirus Infections
Eyelid Xanthoma
Aspartate aminotransferase measurement
Mucolipidosis Type IV
Fat intolerance
Ruptured cerebral aneurysm
Steatocystoma multiplex
Hyperkeratosis lenticularis perstans
Familial lipoprotein deficiency
HMG CoA lyase deficiency
beta^0^ Thalassemia
Arcus juvenilis
Familial hypercholesterolemia - homozygous
Avitaminosis
Apolipoprotein B Assay
Low density lipoprotein increased
Complete hydatidiform mole
Acanthocytosis
Decreased LDL
Triple vessel disease
Hyperfibrinogenemia
Staphylococcus aureus infection
Vitamin Deficiency
Hypobetalipoproteinemia, Familial, Apolipoprotein B
Adult growth hormone deficiency
Premature arteriosclerosis
Hypobetalipoproteinemia, Familial, 2
Abnormality of internal carotid artery
SVEINSSON CHORIORETINAL ATROPHY
Familial hypobetalipoproteinemia
eyelids (symptom)
Alcoholic Steatohepatitis
Low density lipoprotein receptor mutation
Glycogen storage disease type Ia
HEPATIC LIPASE DEFICIENCY (disorder)
HYDATIDIFORM MOLE, RECURRENT, 1
Hypertriglyceridemic Waist
Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B
Precocious atherosclerosis
Cerebral artery atherosclerosis
Myocardial steatosis
Premature plaque build-up in arteries
Premature hardening of arteries
Xanthoma of periocular region
Xanthelasma of periocular region
Adenoma of small intestine
C-reactive protein measurement
Epithelial hyperplasia of skin
Primary Progressive Aphasia (disorder)
Age-associated memory impairment
Scaly skin
Behavioral variant of frontotemporal dementia
Eruptive xanthoma
Familial apolipoprotein C-II deficiency
Lipidemia retinalis
Chylomicronemia syndrome
Deficiency of triacylglycerol lipase
Apolipoprotein C-II Deficiency (disorder)
Familial hyperchylomicronemia syndrome
Intestinal carcinoma
Hypotriglyceridemia
lipoprotein disorder
Fat redistribution
Apolipoprotein C-III Deficiency
BREAST CANCER, SOMATIC
Bradykinesia
Degenerative Diseases, Central Nervous System
Hypokinesia, Antiorthostatic
Degenerative Diseases, Spinal Cord
Angina Pectoris, Variant
Anomia
Anosmia
Blepharitis
Intracranial Arteriosclerosis
Cerebral Atherosclerosis
Communication impairment
Febrile Convulsions
Corneal Diseases
Delirium
Delusions
Multi-infarct dementia
Dermatomycoses
Camurati-Engelmann Syndrome
Dysautonomia, Familial
Hallermann's Syndrome
Hallervorden-Spatz Syndrome
Heart valve disease
Genital Herpes
Herpes Labialis
Keratitis, Herpetic
Herpes zoster disease
Hyperlipoproteinemia Type V
Hypopituitarism
Illusions
Longevity
Mercury Poisoning
Opportunistic Infections
Optic Neuritis
Delirium, Dementia, Amnestic, Cognitive Disorders
Pustulosis of Palms and Soles
Petechiae
Postherpetic neuralgia
Tension Headache
Quadriplegia
Retinal Vein Occlusion
Schistosomiasis
Schistosomiasis mansoni
Schizophreniform Disorders
Sea-Blue Histiocyte Syndrome
Siderosis
Stomatitis, Herpetic
Unspecified idiopathic peripheral neuropathy
Vitamin D Deficiency
Neurofibrillary degeneration (morphologic abnormality)
Apathy
soft neurological signs
Intravenous Drug Abuse
Genital ulcers
Common ventricle
malignant neoplasm of head of pancreas
Malignant neoplasm of body of pancreas
Malignant neoplasm of tail of pancreas
Malignant neoplasm of other specified sites of pancreas
Exfoliation Syndrome
Psychological symptom
Dysphoric mood
Hallucinations, Visual
Extrapyramidal sign
Sensory denervation disorder
Dementia associated with alcoholism
Age-related cognitive decline
Prodrome
Psoriasis vulgaris
Apraxia of Phonation
Cerebral Vasospasm
Norrie disease
NADH cytochrome B5 reductase deficiency
Amyloidosis, Primary Cutaneous
Acute nephropathy
Binswanger Disease
Triplegia
Macular retinal edema
Poisoning syndrome
Dementia of frontal lobe type
Aphasia, Progressive
Semantic Dementia
Sporadic Cerebral Amyloid Angiopathy
Dissection of carotid artery
Cellulitis of eyelid
Internal Carotid Artery Stenosis
Iodine deficiency syndrome
Endemic Cretinism
Guttate psoriasis
Generalized pustular psoriasis
Hepatosplenic schistosomiasis
Tetralogy of Fallot with pulmonary atresia
Imbalance of constituents of food intake
Dementia in Parkinson's disease
Subcortical Vascular Dementia
Corticobasal degeneration
Multiple Sclerosis, Acute Relapsing
Mobility poor
Motor symptoms
Spastic
Cerebrovascular amyloidosis
Mediastinal lymphadenopathy
Apolipoproteins E measurement (procedure)
Neurobehavioral Manifestations
Hypersensitive syndrome
Amyotrophic Lateral Sclerosis, Guam Form
Post-Concussion Syndrome
Alcohol Withdrawal Seizures
Severe depression
cortex bone disorders
Cardiovascular Infections
Intracranial Atherosclerosis
Frontotemporal Lobar Degeneration
Multiple Sclerosis, Acute Fulminating
Carotid Artery Plaque
Carotid Ulcer
Common Carotid Artery Stenosis
External Carotid Artery Stenosis
Primary Progressive Nonfluent Aphasia
Dystonia, Primary
Lobular Neoplasia
Psychotic symptom
Arteriolosclerosis
Lipoprotein (a) measurement
frontal dementia
Recurrent genital herpes simplex
Memory performance
Postoperative confusion
Arteriosclerosis of aorta
Cognitive changes
Nontraumatic subarachnoid hemorrhage, unspecified
Cerebral Amyloid Angiopathy, Hereditary
Primary Cutaneous B-Cell Non-Hodgkin Lymphoma
Mobility Limitation
Alport Syndrome, X-Linked
Soft drusen
Progression of Alzheimer's disease
Sleep-wake cycle disturbance
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
FRAGILE X TREMOR/ATAXIA SYNDROME
Alzheimer disease, familial, type 3
ALZHEIMER DISEASE 4
Lewy Body Variant of Alzheimer Disease
Alzheimer Disease 7
Absent axillary hair
ARTERIAL TORTUOSITY SYNDROME
Apolipoprotein E, Deficiency or Defect of
Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d
Familial Hyperbeta- and Prebetalipoproteinemia
Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis
Broad-Betalipoproteinemia
Floating-Betalipoproteinemia
CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO
Macular Degeneration, Age-Related, 1
Long-tract signs
Middle age onset
Mixed hyperlipidemia (disorder)
Daytime somnolence
Iatrogenic Jakob-Creutzfeldt disease
clinical depression
Sense of smell impaired
LIPOPROTEIN GLOMERULOPATHY
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5
Hypothalamic-pituitary-adrenal axis dysfunction
Executive dysfunction
Somnolence
Visuospatial deficit
Amyloid angiopathy
Acquired CJD
Psychological Trauma
Single Ventricle Defect
Prodromal Period
Prodromal Stage
Mild dementia
Severe dementia
Idiopathic Nephrotic Syndrome
Mixed dementia
Dementia due to Alzheimer's disease (disorder)
ALZHEIMER DISEASE 19
GRN-related frontotemporal dementia
Depression in old age
Dysexecutive syndrome
Recurrent hepatitis
Speech Sound Disorders
Restrictive behavior
Proximal spinal muscular atrophy
Obstructive sleep apnea hypopnea
Mesangial proliferation
Abnormality of the eye
Collagen Diseases
Disseminated Intravascular Coagulation
Rheumatism
Antiphospholipid antibodies measurement
Heparin-induced thrombocytopenia
Behavioral Symptoms
Beriberi
Confusion
Diabetes Insipidus
Hypesthesia
Language Disorders
Osteitis Deformans
Other specified iron deficiency anemias
Phenylketonurias
Pityriasis Rubra Pilaris
Henoch-Schoenlein Purpura
Thiamine Deficiency
Agitation
Cerebellar hemorrhage
Excessive tearing
General Paralysis
Disorientation
Hysterical amnesia
Temporary Amnesia
Todd Paralysis
Hallucinations, Sensory
Dissociative Amnesia
anxiety generalized
Cerebral dysfunction
Global Amnesia
Ichthyosis linearis circumflexa
Gaucher Disease, Type 3 (disorder)
Familial Cerebral Amyloid Angiopathy
Cerebral calcification
Charcot-Marie-Tooth Disease, Type Ia (disorder)
Cortical cataract
Senile Paranoid Dementia
Hereditary cerebrovascular amyloidosis
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Social disinhibition
Neuropil Threads
3-Methylglutaconic aciduria type 2
Autotomy
Neurogenic Inflammation
temporal pain
Tactile Amnesia
Amnestic State
Familial Dementia
FRAXA Syndrome
Hypothalamic Dysfunction Syndromes
Classical phenylketonuria
Bardet-Biedl Syndrome
Chromosome 21 monosomy
Dyscalculia
Poorly Differentiated Thyroid Carcinoma
Vascular degeneration
Developmental arithmetic disorder
PRESENILE AND SENILE DEMENTIA
Peroxisome biogenesis disorders
MYELOPROLIFERATIVE SYNDROME, TRANSIENT
Tortuous cerebral arteries
Spastic Ataxia
Deposits immunoreactive to beta-amyloid protein
DOWN SYNDROME CRITICAL REGION
ALZHEIMER DISEASE, FAMILIAL, 1
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
FANCONI ANEMIA, COMPLEMENTATION GROUP C
ALZHEIMER DISEASE, PROTECTION AGAINST
Spastic Paraplegia Type 7
SMITH-MCCORT DYSPLASIA 1
Early onset torsion dystonia
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT
Abnormal social interactions
Abnormal social behavior
Recurrent cerebral hemorrhage
Bloom Syndrome
Chronic Fatigue Syndrome
Osteitis Fibrosa Disseminata
Type II Mucolipidosis
Disruptive, Impulse Control, and Conduct Disorders
Methemoglobinemia
Mucopolysaccharidosis IV
Osteoblastoma
Preexcitation Syndrome
Pseudohypoparathyroidism
Pseudopseudohypoparathyroidism
Sexually Transmitted Diseases
Wolff-Parkinson-White Syndrome
Mucopolysaccharidosis, MPS-IV-A
Conduction system abnormalities
Dermatitis, Irritant
Urinary tract obstruction
Fibrous Dysplasia
Congenital emphysema
Gout, HPRT-Related
Adenine phosphoribosyltransferase deficiency
APRT deficiency, Japanese type
Glycogen storage disease, type IX
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Cardiac glycogenosis
Optic Nerve Glioma
Carney Complex
Ventricular preexcitation
Glycogen Storage Disease Type IIb
Deficiency of phosphorylase kinase
Childhood Ataxia with Central Nervous System Hypomyelinization
GALNS Deficiency
Pseudohypoparathyroidism, Type Ia
2,8-Dihydroxyadenine Urolithiasis
Familial Testicular Germ Cell Tumor
Neuroepithelioma
Benign prostatic hypertrophy
Corn of toe
Fowlpox
Granulomatous prostatitis
Prostate nodule
Epididymo-orchitis
Prostate specific antigen measurement
Pituitary-dependent Cushing's disease
Residual Cancer
Disorder of soft tissue
Erythroblastosis
Prostate cancer recurrent
Anastomosis
Urinary symptoms
Prostatic Adenoma
Recurrent Carcinoma
Vascular Hemostatic Disorders
Stage III Colorectal Cancer
Locally Advanced Malignant Neoplasm
Localized Malignant Neoplasm
Localized Carcinoma
Malignant Phyllodes Tumor of Prostate
CATARACT, ANTERIOR POLAR
Cryopyrin-Associated Periodic Syndromes
Prostate cancer, familial
Stage III Colorectal Cancer AJCC v7
Prostate cancer stage D
Proliferative Inflammatory Atrophy
Aplastic Anemia
Anemia, Splenic
Cutaneous Fibrous Histiocytoma
Arthralgia
Eosinophilic granulomatosis with polyangiitis
Clonorchiasis
Corneal dystrophy
Endophthalmitis
Felty Syndrome
Granular Dystrophy, Corneal
Hemiparesis
Sinus histiocytosis
Hypergammaglobulinemia
Actinic keratosis
Globoid cell leukodystrophy
Macular Holes
Paroxysmal nocturnal hemoglobinuria
Metaplasia
Ocular Hypertension
Orchitis
Pregnancy Complications, Cardiovascular
Retinitis
Burn scar
Sialadenitis
Aphthous Stomatitis
Taste Disorders
Uveomeningoencephalitic Syndrome
Varicose Ulcer
Lymphoma, Large-Cell, Follicular
Low Grade Lymphoma (neoplasm)
Precursor cell lymphoblastic lymphoma
Adult-Onset Still Disease
Oral Ulcer
Rheumatoid factor positive (finding)
Anti-nuclear factor positive
Ulcer of esophagus
Gastroparesis
Malignant neoplasm of cheek mucosa
Christ-Siemens-Touraine syndrome
Parapsoriasis en Plaques
Neuroectodermal Tumors
CREST Syndrome
Poliosis
Taste Disorder, Primary
Taste Disorder, Primary, Sweet
Taste Disorder, Primary, Salt
Taste Disorder, Primary, Bitter
Taste Disorder, Anterior Tongue
Taste Disorder, Secondary
Taste Disorder, Secondary, Sweet
Taste Disorder, Secondary, Salt
Taste Disorder, Secondary, Bitter
Taste Disorder, Posterior Tongue
Immunologic hypersensitivity
Increased IgA level
Taste, Metallic
Skin bullae
Smooth muscle antibodies positive
Premature canities
Coffin-Siris syndrome
Primary central nervous system lymphoma
Autoimmune neutropenia
Acute HIV infection
Granulomatous Slack Skin
Chronic small plaque psoriasis
Coombs positive hemolytic anemia
Acute myeloid leukemia, minimal differentiation
Squamous cell carcinoma of mouth
Myasthenia Gravis, Generalized
Myasthenia Gravis, Ocular
Mycosis fungoides/Sezary syndrome NOS
lupus erythematodes
Diffuse Scleroderma
Diarrhea-associated hemolytic uremic syndrome
Invasive Streptococcus pneumoniae disease
Autoimmune Lymphoproliferative Syndrome
Cardiac Lymphoma
Gastric Diffuse Large B-Cell Lymphoma
Systemic onset juvenile chronic arthritis
Histiocytoma
Preterm Premature Rupture of Fetal Membranes
hypopigmented skin patch
Reduced delayed hypersensitivity
Autoimmune Lymphoproliferative Syndrome Type 2B
Decreased lymphocyte apoptosis
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
Increased proportion of HLA DR+ and CD57+ T cells
Increased IgG level
Platelet antibody positive
Antineutrophil antibody positivity
Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IB
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive
Depressive Disorder, Treatment-Resistant
Abnormal blistering of the skin
Skin blisters
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
Abnormality of the eyelashes
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant
Recurrent aphthous ulcer
Male Germ Cell Tumor
intracranial glioma
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative
Oligoarticular Juvenile Idiopathic Arthritis
Abnormality of the eyebrow
Follicular hyperplasia
SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
Antiphospholipid antibody positivity
Testicular Diseases
Childhood Brain Neoplasm
Aggressive natural killer-cell leukemia
Congenital dyserythropoietic anemia
Uterine Cervicitis
Choledochal Cyst
Choledochal Cyst, Type I
Edema, Cardiac
Leishmaniasis, Visceral
Neuromyelitis Optica
Endotoxic shock
Spinal Cord Injuries
Klatskin Tumor
Spinal Cord Contusion
Spinal Cord Laceration
Spinal Cord transection injury
Post-Traumatic Myelopathy
Choledochal Cyst, Type II
Choledochal Cyst, Type III
Choledochal Cyst, Type IV
Choledochal Cyst, Type V
Polycystic Kidney - body part
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
Primary Hyperthyroidism
Polyuria
Impairment of urinary concentration
Acquired Nephrogenic Diabetes Insipidus
Bedwetting
Equilibration disorder
Congenital Nephrogenic Diabetes Insipidus
Central Diabetes Insipidus
Hypertonic dehydration
Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type II
Unexplained fevers
Nephrogenic Syndrome of Inappropriate Antidiuresis
Hypernatremic dehydration
ADH-Resistant Diabetes Insipidus
Partial nephrogenic diabetes insipidus
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT
Medullary carcinoma
Intestinal metaplasia of gastric mucosa
GIL BLOOD GROUP
Myelitis
Drug-induced depressive state
Fukuyama Type Congenital Muscular Dystrophy
Panencephalitis
Chronic inflammatory disorder
Opticospinal Multiple Sclerosis
Autoinflammatory disorder
Sudden sensorineural hearing loss
Keratoderma, Palmoplantar, Diffuse
Dental Fluorosis, Acquired
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC
Diffuse palmoplantar keratoderma, Bothnian type
Ectodermal Dysplasia
Keratitis-Ichthyosis-Deafness Syndrome
Mental handicap
GLYCEROL QUANTITATIVE TRAIT LOCUS
Arsenic Poisoning, Inorganic
Nervous System, Organic Arsenic Poisoning
Arsenic Poisoning
Arsenic Encephalopathy
Arsenic Induced Polyneuropathy
Pericytic Neoplasm
Infective endocarditis
Adenolymphoma
Amenorrhea
Phyllodes Tumor
Muscular fasciculation
Psychosexual identity disorder
Genital Diseases, Male
Giant Cell Tumors
Angiolymphoid hyperplasia
Von Hippel-Lindau Syndrome
Histiocytosis, Langerhans-Cell
Hydrophthalmos
Bloch Sulzberger syndrome
Infertility
Female infertility
Mouth Abnormalities
neurofibroma
Spinal Diseases
Sterility, Postpartum
Supernumerary structure
Li-Fraumeni Syndrome
Acquired porencephaly
Malignant neoplasm of endocrine gland
Congenital malformation of genital organs
Neurofibromatoses
Aicardi's syndrome
Trophoblastic Tumor, Placental Site
Cystadenoma, Serous
Nerve Sheath Tumors
Congenital hernia
Disorder of male reproductive system
Female Pseudohermaphroditism
Gonadal Dysgenesis, 45,X
Breast Neoplasms, Male
Secondary pulmonary hypertension
Dyskeratosis Congenita
Congenital absence of vas deferens
Deficiency of steroid 21-monooxygenase
Pseudovaginal Perineoscrotal Hypospadias
Vulvar Vestibulitis
Motor Neuron Disease, Lower
Invasive Lobular Breast Carcinoma
Congenital porencephaly
Lymphoid hyperplasia
Bifid scrotum
Subfertility, Female
C-cell hyperplasia of thyroid
Deficiency of testosterone biosynthesis
Carcinoma ex pleomorphic adenoma
Bulbospinal Neuronopathy
Female infertility associated with anovulation
Uterus absent (finding)
Hypospadias, penoscrotal
Hypospadias, perineal
Decreased fertility
Neuroendocrine disease or syndrome
pseudohermaphrodite (non-specific)
Craving for alcohol
Deformity of spine
Hereditary Breast and Ovarian Cancer Syndrome
Cancer Relapse
Pyloric Stenosis, Hypertrophic
Subfertility
Poorly differentiated carcinoma
Heredodegenerative Disorders, Nervous System
Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 6 (disorder)
Atrophy, Muscular, Spinobulbar
21-hydroxylase deficiency
Partial androgen resistance
Borderline ovarian tumour
Erdheim-Chester Disease
Female sterility
Progressive Muscular Atrophy
Large cell neuroendocrine carcinoma
Intratubular malignant germ cells
Small cell carcinoma of prostate
Salivary duct carcinoma
Fibrous histiocytoma of tendon sheath
Pulmonary Sclerosing Hemangioma
Prostate Phyllodes Tumor
Metastatic Carcinoma
cancer angiogenesis
Carcinoma of Endocrine Gland
Progression of prostate cancer
SPINOCEREBELLAR ATAXIA 8
Calf muscle hypertrophy
SPINOCEREBELLAR ATAXIA 17
Blind vagina
Absent facial hair
Labial hypoplasia
Proximal amyotrophy
Absent pubic hair
Scrotal hypospadias
Hypospadias 1, X-Linked
Androgen Receptor Deficiency
Vestibulodynia
46, XY Disorders of Sex Development
Testicular dysgenesis syndrome
Sex Differentiation Disorders
Split hand foot deformity 1
Bulbospinal neuronopathy, X-linked recessive
Type I familial incomplete male pseudohermaphroditism
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Cervical Intraepithelial Neoplasia Grade 2/3
Sclerosing Polycystic Adenosis
PROSTATE CANCER, SUSCEPTIBILITY TO
Prostatic Cancer, Castration-Resistant
Prostatic Neoplasms, Castration-Resistant
5-Alpha Reductase Deficiency
Langerhans cell histiocytosis of skin
PROSTATE CANCER, SOMATIC
ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER
Absent or rudimentary fallopian tubes
Non-obstructive azoospermia
Gonadal neoplasm
Germ cell neoplasia
Erectile abnormalities
Obstructive azoospermia
Aplasia/Hypoplasia of the fallopian tube
Abnormality of the rib cage
Porencephaly
Spinocerebellar ataxia type 8
Restrictive cardiomyopathy
Jaundice, Chronic Idiopathic
Retinal Hemorrhage
Stricture of artery
Idiopathic arterial calcification of infancy
Conjugated hyperbilirubinemia
Coagulation factor deficiency syndrome
Hyaline body
Gronblad-Strandberg Syndrome
Increased tendency to bruise
Peau d'orange surface of breast
metabolic disturbance
Calcification of falx cerebri
Thickened nuchal skin fold
High, narrow palate
Calcification of Joints and Arteries
Arterial calcification of infancy
Abnormality of the sternum
COLCHICINE RESISTANCE
Pseudoxanthoma Elasticum, Incomplete
Yellow papule
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
PXE, MODIFIER OF SEVERITY OF
Medial calcification of medium-sized arteries
Excessive wrinkled skin
Medial calcification of large arteries
Yellow-orange papule
Premature occlusive vascular stenosis
Histiocytosis
Histiocytosis, Non-Langerhans-Cell
Papillary renal cell carcinoma, sporadic
CONE DYSTROPHY, X-LINKED, 1
Astigmatism
Coxa valga
Orbital separation diminished
Hypoplasia of scrotum
Simple syndactyly of toes, first web space
Advanced bone age
Coxa valga deformity
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY
Bronchitis
Nematode infections
Humoral hypercalcemia of malignancy (disorder)
CONSTRICTING BANDS, CONGENITAL
Metastatic osteosarcoma
Helicobacter-associated gastritis
Ferrochelatase deficiency
Skin toxicity
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
Periventricular Nodular Heterotopia
Tonsillitis
Acute glomerulonephritis
Congenital cystic kidney disease
Cystic Kidney Diseases
Epilepsy, Myoclonic, Infantile
Asbestosis
Hair Diseases
Diffuse cutaneous leishmaniasis
Urea Cycle Disorders, Inborn
Alphavirus Infections
Orotic aciduria
Hyperargininemia
Disseminated neuroblastoma
Muscle fibrosis
Stage 4S neuroblastoma
Lymphoma, Extranodal NK-T-Cell
Pulmonary Fibrosis - from Asbestos Exposure
RETINOSCHISIS 1, X-LINKED, JUVENILE
Diaminoaciduria
Necrotizing enterocolitis in fetus OR newborn
Gyrate Atrophy
Chloasma
Sexual Arousal Disorder
Growth Hormone-Producing Pituitary Gland Neoplasm
Follicular neoplasm
Paroxysmal nonkinesigenic dyskinesia
Abnormalities, Drug-Induced
Congenital hernia of foramen of Morgagni
Congenital hernia of foramen of Bochdalek
Cutaneous anaphylaxis
Deficiency of mevalonate kinase
African Burkitt's lymphoma
Creatinine measurement, serum (procedure)
Glomerular filtration rate finding
Congenital stenosis of aqueduct of Sylvius
Obstructive Hydrocephalus
Aqueductal Stenosis
MICROPHTHALMIA, SYNDROMIC 7
Progressive renal failure
Rapidly progressive
Rapidly progressive disorder
Thin glomerular basement membrane
NEPHROTIC SYNDROME, TYPE 8
Pulmonary alveolitis
Epidermodysplasia Verruciformis
Primary cutaneous marginal zone B-cell lymphoma
Primary Cutaneous Follicle Center Lymphoma
T-lymphocyte deficiency
Amblyopia
Strabismus fixus
Congenital Fibrosis of the Extraocular Muscles
Fibrosis Of Extraocular Muscles, Congenital, 1
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2
Bilateral ptosis
Restrictive external ophthalmoplegia
Restrictive external ophthalmoplegia, bilateral
Mean blood pressure
Familial aplasia of the vermis
RETINITIS PIGMENTOSA 2 (disorder)
Dysplastic Nevus
EPIDERMAL DIFFERENTIATION COMPLEX
Multiple congenital anomalies
Pneumococcal Infections
Seasonal Affective Disorder
Angelman Syndrome
Transferrin measurement
Carcinoma in situ of fallopian tube
Retinal Vasculitis
Hypoparathyroidism - autosomal dominant
X-linked agammaglobulinemia with growth hormone deficiency
Cholestatic liver disease
Carney Complex, Type 1
MYOPIA 26, X-LINKED, FEMALE-LIMITED
Portal hypertensive gastropathy
Social Anhedonia
Acanthamoeba Keratitis
Myoclonic Epilepsy
Paratuberculosis
Shprintzen syndrome
Chronic psychosis
Abnormal gallbladder function
Chronic urticaria
Multiple Sulfatase Deficiency Disease
Undifferentiated schizophrenia
Metachromatic leukodystrophy, juvenile type
Metachromatic Leukodystrophy, Infant
Metachromatic Leukodystrophy, Adult-Type (disorder)
Myoclonic Epilepsies, Progressive
Unverricht-Lundborg Syndrome
Sulfatiduria
Increased CSF protein
Pseudoarylsulfatase A Deficiency
Decreased nerve conduction velocity
Platelet Aggregation, Spontaneous
Arylsulfatase A Deficiency
Hereditary Neurodegenerative Disorder
ARYLSULFATASE A PSEUDODEFICIENCY
METACHROMATIC LEUKODYSTROPHY, LATE-ONSET
METACHROMATIC LEUKODYSTROPHY, SEVERE
ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE
ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE
METACHROMATIC LEUKODYSTROPHY, MILD
Hip Dislocation, Congenital
Hirsutism
Mucopolysaccharidosis III
Mucopolysaccharidosis Type IIIA
Cervical myelopathy
Arylsulfatase B measurement
Abnormality of the heart valves
Selenium measurement
Epiphyseal dysplasia
cardiac symptom
Prominent sternum
Disproportionate short-trunk short stature
Hypoplasia of the odontoid process
Hypoplastic acetabulae
Broad ribs
Dermatan sulfate excretion in urine
Ovoid vertebral bodies
Hypoplastic iliac wing
Flared iliac wings
MUCOPOLYSACCHARIDOSIS, TYPE VI, INTERMEDIATE
MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE
MUCOPOLYSACCHARIDOSIS, TYPE VI, MILD
Bullet vertebral body
Constrictive median neuropathy
Anterior wedging of L2
Anterior wedging of L1
Abnormal development of end part of bone
Cervix Diseases
Chondrodysplasia Punctata
Meningitis, Pneumococcal
Otitis Media
Albinism, Ocular
Ichthyosis Vulgaris
Trisomy X syndrome
Vaginal intraepithelial neoplasia
Anal intraepithelial neoplasia
Cervical intraepithelial neoplasia grade 1
Cervical intraepithelial neoplasia grade 2
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Anaplastic Oligoastrocytoma
Chronic Alcoholic Hepatitis
vaginalis
Smith-Magenis syndrome
Carcinoma in situ of uterine cervix
Deficiency of sulfatase
Low Grade Squamous Intraepithelial Neoplasia
Retention hyperkeratosis
Minimal Brain Dysfunction
High Grade Cervical Intraepithelial Neoplasia
Cervical high grade squamous intraepithelial lesion
Cervical Squamous Intraepithelial Neoplasia 1
Barakat syndrome
CATARACT, AUTOSOMAL DOMINANT
ALZHEIMER DISEASE 5
Ichthyosis, X-Linked, Complicated
Placental Steroid Sulfatase Deficiency
Infectious Otitis Media
Melanocytic nevus of skin
Syndromic recessive X-linked ichthyosis
Foramen Ovale, Patent
Asperger Syndrome
Cartilage Diseases
Vitamin K Deficiency
Brachytelephalangic Chondrodysplasia Punctata
Short nasal septum
Stippled epiphyses
Abnormality of the backbone
Abnormality of the vertebral column
Platybasia
Seborrheic dermatitis
Tetany
Bulbous nose
Hypernasal voice
Nasal voice
CONOTRUNCAL ANOMALY FACE SYNDROME
Schizophrenia and related disorders
Potato nose
Small earlobe
Prominent nasal bridge
Bulbous nasal tip
22q11 Deletion Syndrome
Abnormality of aortic arch
Abnormality of pulmonary valve
22q11 partial monosomy syndrome
Dysseborrheic dermatitis
Persistant truncus arteriosus
Abnormality of the tonsils
Occipital myelomeningocele
Abnormality of the pharynx
Convex nasal bridge
Joint swelling
Neonatal diabetes mellitus
Fasciculation, Tongue
Laryngomalacia
Farber Lipogranulomatosis
Difficulty walking
Epilepsy, Rolandic
Lipogranuloma
Jankovic Rivera syndrome
Degeneration of anterior horn cells
PSEUDOHYPOPARATHYROIDISM, TYPE IB
SAPOSIN D (disease)
Cherry red spot of the macula
Benign Rolandic Epilepsy
Combined Saposin Deficiency
Hoarse cry
Albright's hereditary osteodystrophy
Pseudohypoparathyroidism Type 1B
Periarticular subcutaneous nodules
Progressive distal muscular atrophy
Body Temperature Changes
Dysautonomia
Sleep-related respiratory failure
Megacolon
Olfactory Neuroblastoma
Islet Cell Tumor
Posteriorly rotated ear
Cerebrovascular Occlusion
Congenital central hypoventilation
Supratentorial Embryonal Tumor, Not Otherwise Specified
Differentiating Neuroblastoma
Sinonasal undifferentiated carcinoma
Abnormality of temperature regulation
Autonomic dysregulation
CCHS WITH HIRSCHSPRUNG DISEASE
Digestive System Neuroendocrine Carcinoma
Central hypoventilation
Breathing dysregulation
Hydatidiform Mole, Invasive
Double inlet left ventricle
Basal cell carcinoma
Incontinentia Pigmenti Achromians
Schamberg Disease
Pigmentation Disorders
Pigmented Basal Cell Carcinoma
Hereditary Melanoma
Alkalosis, Respiratory
Aminoaciduria
Clastothrix
Acute type B viral hepatitis
Dry hair
Protein avoidance
Hyperglutaminemia
Episodic ammonia intoxication
Arginine deficiency
Abnormal urinary amino-acid findings
Hypoargininemia
Pineal Gland Neoplasm
pineoblastoma
Pineocytoma
Hyperexplexia
Large hand
Long foot
Hypsarrhythmia
Delayed myelination
Exaggerated startle response
Exaggerated acoustic startle response
Hypoplasia of the pons
Increased startle response
Psychomotor retardation, profound
Sloping forehead
Congenital microcephaly
Cortical gyral simplification
Profound global developmental delay
ASPARAGINE SYNTHETASE DEFICIENCY
Myopia, Degenerative
Canavan Disease
Canavan Disease, Familial Form
Canavan Disease, Neonatal
Canavan Disease, Sporadic Form
Canavan Disease, Infantile
Canavan Disease, Juvenile
Aminoacylase 2 Deficiency
Late closure of anterior fontanel
CANAVAN DISEASE, MILD
Aplasia/Hypoplasia involving the central nervous system
Delayed closure of the soft spot on the skull
Ectopia Lentis
Lens dislocation
Malocclusion
Convex nasal ridge
Bile duct proliferation
Atrophic iris
Hepatobiliary neoplasm
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
EAR, PATELLA, SHORT STATURE SYNDROME
Large beaked nose
Angle class 3 malocclusion
Angle class 2 malocclusion
Familial Tremor
Argininosuccinic Acid Synthetase Deficiency Disease, Partial
Argininosuccinic Acid Synthetase Deficiency, Complete
CITRULLINEMIA, MILD
Craniocerebral Trauma
Hepatic Vein Thrombosis
Legg-Calve-Perthes Disease
Renal Artery Obstruction
Supraventricular tachycardia
Charcot-Marie-Tooth Disease, Type Ib
ANTICOAGULANT DISORDERS
Antithrombin III Deficiency
Cerebral venous sinus thrombosis
Head Injury, Superficial
Hypoplasminogenemia
Protein C Deficiency
Head Injuries, Multiple
Crushing Skull Injury
Head Injury, Open
Hypofibrinogenemia
Head Injury, Minor
Central nervous system lymphoma
Frontal Region Trauma
Occipital Region Trauma
Parietal Region Trauma
Temporal Region Trauma
Intracranial Thrombosis
Brain Thrombosis
Budd-Chiari Syndrome
Brain Thrombus
Cerebral Thrombus
Congenital disorder of glycosylation type 1B
Hereditary antithrombin III deficiency
Recurrent thrombophlebitis
Hereditary Antithrombin Deficiency
Hematocrit procedure
Glucose measurement
Cardiac embolism
Persistent atrial fibrillation
familial atrial fibrillation
Jeune thoracic dystrophy
Prothrombin G20210A mutation
Myoepithelioma
Clear cell sarcoma, of tendons and aponeuroses
Round cell sarcoma
Histiocytoma, Angiomatoid Fibrous
Bone Sarcoma
Japanese Encephalitis
Stromal Neoplasm
Exudative edema
Congenital cataract
Mammary Ductal Carcinoma
Age-related cataract
Simple renal cyst
stage, neuroblastoma
Renal cyst
Nonnuclear polymorphic congenital cataract
Congenital blindness
Blindness, Transient
Blindness, Hysterical
Blindness, Acquired
Amaurosis
Blindness, Monocular
Prominent forehead
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Fused labia minora
Bulging forehead
Blindness both eyes NOS (disorder)
Bone Marrow Diseases
Cerebellar Diseases
Cholangitis
Craniopharyngioma
Leukemia, T-Cell, Chronic
Leukoplakia
Paraganglioma
Proctitis
Immunoblastic Large-Cell Lymphoma
Choreoathetosis
Malignant neoplasm of fallopian tube
Benign neoplasm of bladder
Carcinoma in situ of bladder
Exudative retinopathy
Abnormality of the hair
Childhood Hodgkin Lymphoma
Cafe-au-Lait Spots
Ataxic
Choreoathetoid movements
Elevated alpha-fetoprotein
Seckel syndrome
Birthmark
Chronic viral hepatitis
stage, cervical cancer
Infantile Refsum Disease (disorder)
Chromosome Breakage
Progressive cerebellar ataxia
Isolated cervical dystonia
Alpha fetoprotein abnormal
Neoplasm of uncertain or unknown behavior of bladder
Abnormal spermatogenesis
Palmar-plantar erythrodysesthesia syndrome
Malignant lymphoma - lymphocytic, intermediate differentiation
Lymphoid neoplasm
Idiopathic polypoidal choroidal vasculopathy
Recurrent bronchitis
Sickle Cell Dactylitis
Hypocomplementaemia
Pancreatic carcinoma resectable
Polyomavirus Infections
Contralateral breast cancer
Hereditary non-polyposis colorectal cancer syndrome
Neuropathy ataxia and retinis pigmentosa
Aggressive Non-Hodgkin Lymphoma
Pyothorax-Associated Lymphoma
Unilateral Breast Carcinoma
Decreased number of CD4+ T cells
Dopa-Responsive Dystonia
ATAXIA-TELANGIECTASIA-LIKE DISORDER
Defective B cell differentiation
B-CELL MALIGNANCY, LOW-GRADE
Ataxia-Telangiectasia Variant
Abnormality of the hair shaft
Pancreatic carcinoma, familial
Laryngopharyngeal Cancer
Hypopigmentation of hair
BREAST CANCER, SUSCEPTIBILITY TO
response to metformin
Hodgkin's disease in children
Lymphoblastic leukemia in children
Radiation Damage
CD4+ T-cell lymphopenia
ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY
Unilateral Breast Neoplasms
Abnormal sperm development
Abnormality of bone marrow cell morphology
Blepharophimosis
Self-Injurious Behavior
Flexion contracture of proximal interphalangeal joint
Self-harm
Autistic behavior
Generalized vitiligo
Cerebellar vermis hypoplasia
Chromosome 1p36 Deletion Syndrome
Depressed nasal ridge
Hypoplastic feet
Broad eyebrow
Horizontal eyebrow
High-grade hypermetropia
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
Carcinoid, Goblet Cell
Cerebellar Liponeurocytoma
Alcohol Toxicity
Gastroenteritis, Transmissible, of Swine
Hearing Loss, Central
Hearing Loss, High-Frequency
Vestibular Diseases
Aldosterone-Producing Adrenal Cortex Adenoma
Diplopia
Dizziness
Drowsiness
Hemiplegia
Vertigo
Familial benign neonatal epilepsy
epilepsy and migraine
Basilar-Type Migraine
Hemiplegic migraine
Migraine with Prolonged Aura
Familial Hemiplegic Migraine
Alternating hemiplegia of childhood
Migrainous vertigo
Transient neurological symptoms
Episodic Ataxia
Episodic ataxia type 2 (disorder)
Migraine with Typical Aura
Hemiplegic migraine, familial type 1
MIGRAINE, SPORADIC HEMIPLEGIC
Episodic hemiplegia
Episodic quadriplegia
MIGRAINE, FAMILIAL HEMIPLEGIC, 2
Migraine, Familial Basilar
Transient unilateral blurring of vision
Familial migraine
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
Drooling
Sialorrhea
Talipes cavus
Oculogyric crisis
Motor Disorders
Gait, Unsteady
Disturbance of consciousness
Mixed bipolar I disorder
Retinoschisis, Juvenile, X-Linked
Hemiplegia, Crossed
Familial Dystonia
Expressionless face
Neonatal infection
Epicanthus palpebralis
CAPOS syndrome
Progressive visual loss
Postural instability
Decreased facial expression
DYSTONIA 12
Decreased visual acuity, progressive
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
Weakness
Abnormality of earlobe
Episodic generalized hypotonia
Decreased facial muscle movement
Anemia, Pernicious
Dyspepsia
Gastroenteritis
Medullary sponge kidney
Arthritis, Reactive
Recurrent ulcer
Eosinophilic esophagitis
Clostridium difficile infection
Infantile malignant osteopetrosis
NGLY1 deficiency
Autoimmune gastritis
Non-ST Elevated Myocardial Infarction
Anthracosis
Cytogenetically normal acute myeloid leukemia
Dihydrotestosterone Assay
Testosterone measurement
Hypocalciuria
Magnesium Deficiency
Hypomagnesemia
Primary hypomagnesemia (disorder)
Hypomagnesemia 2, renal
Malignant hyperpyrexia due to anesthesia
Premenstrual Tension
Central Core Myopathy (disorder)
Brody myopathy
Acrokeratosis
Stunned Myocardium
Myocardial Stunning
Acrokeratosis Verruciformis of Hopf
major affective disorder
Hypertrophy of parotid gland
Hibernation, Myocardial
Palmar pit
Ridged nails
Acantholytic Dyskeratotic Epidermal Nevus
Anal mucosal leukoplakia
Darier Disease, Acral Hemorrhagic Type
Darier Disease, Segmental
Plantar pits
Subungual hyperkeratotic fragments
heart rate
blood phenylalanine measurement by Guthrie microbiologic assay
Deafness, Autosomal Recessive 12
Niemann-Pick Disease, Type A
SPINOCEREBELLAR ATAXIA, X-LINKED 1
Spinocerebellar Ataxia, X-Linked 5
Abnormality of the cerebral cortex
Malaria, antepartum
Congenital long QT syndrome
Gastric Neuroendocrine Tumor
Hyper-beta-alaninemia
Complex V deficiency
Mitochondrial Respiratory Chain Deficiencies
Increased blood alanine
Increased serum alanine
Mitochondrial encephalopathy
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
Pendred's syndrome
Superficial spreading malignant melanoma of skin
Pigment dispersion syndrome (disorder)
Deficiency of glutamate decarboxylase
Usher Syndrome, Type I
EPILEPSY, PYRIDOXINE-DEPENDENT
Prenatal movement abnormality
Usher syndrome, type 1A
Folinic acid responsive seizure syndrome
Neonatal respiratory distress
Respiratory complex deficiency, ATPase deficiency
Leigh Disease
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3
3-Methylglutaconic Aciduria
Decreased activity of mitochondrial ATP synthase complex
Dandy-Walker Syndrome
Histoplasmosis
Cutis Laxa, Autosomal Recessive, Type IIA
Coarse hair
Generalized joint laxity
Psychomotor deterioration
Redundant neck skin
Infantile muscular hypotonia
Prominent nasolabial fold
Subretinal pigment epithelium hemorrhage
Abnormal isoelectric focusing of serum transferrin
Prominent veins on trunk
Thick cerebral cortex
Rough hair texture
Thick hair
Fragmented elastic fibers in the dermis
Abnormal apolipoprotein level
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
Compensated acidosis
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
Lymphoma, Mixed-Cell, Follicular
Lymphoma, Small Cleaved-Cell, Follicular
Hidrotic Ectodermal Dysplasia
Micronychia (disorder)
ANONYCHIA
Synophrys
Zimmerman Laband syndrome
Underdeveloped nasal alae
Deep philtrum
Thick eyebrow
Lymphoma, Follicular, Grade 1
Lymphoma, Follicular, Grade 3
Lymphoma, Follicular, Grade 2
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
Myeloperoxidase Measurement
Depressed philtrum
Prominent nasal septum
ZIMMERMANN-LABAND SYNDROME 2
Visible nasal septum
Low hanging nasal septum
Entropion
Flatfoot
Tooth Crowding
Tricuspid Valve Insufficiency
Hand clenching
Acquired flat foot
Cat eye syndrome
Flexion contracture of the knee
Small nostrils
Narrow nostrils
Bilateral Cryptorchidism
Tooth size discrepancy
Naris, slit-like
Broad columella
Reduced subcutaneous adipose tissue
Hyperplasia of columella
Collapsed nostrils
Tooth mass arch size discrepancy
Inadequate arch length for tooth size
Pallister-Hall syndrome
FICOLIN 3 DEFICIENCY
IMMUNODEFICIENCY 47
Disorder of copper metabolism
Hemolysis (disorder)
Menkes Kinky Hair Syndrome
Neurologic Manifestations
Venous Insufficiency
Bladder Diverticulum
Hypopigmentation disorder
Intravascular hemolysis
Hyperextensible skin
Velvety skin
Hypocupremia
Cutis laxa, x-linked
Extravascular Hemolysis
Osseous ankylosis
Sialuria
Wooly hair
Neurological observations
Narrow thorax
Congenital hypoplasia of clavicle
Broad clavicle
Neurologic Deficits
Redundant skin
Aortic Aneurysm, Ruptured
Focal Neurologic Deficits
Generalized osteopenia
Neurologic Dysfunction
Neurologic Signs
Ehlers-Danlos syndrome type IX
Sialic Acid Storage Disease, Finnish Type (disorder)
Disorder of face
Tortuous carotid artery
Short humerus
Metaphyseal spurs
Poor suck
Long neck
Short palm
Soft skin
Pelvic bone exostoses
Limited knee extension
Spinal Muscular Atrophy, Distal, X-Linked 3
Persistent open anterior fontanelle
Prominent occiput
Capitate-hamate fusion
Limited elbow extension
Generalized elastolysis
Hiatal Hernia
Joint hyperflexibility
Aneurysmal disease
Abnormality of the sense of smell
Abnormality of the wrist
Abnormality of the palate
Abnormal carotid artery morphology
Abnormal peripheral nervous system morphology
Abnormality of the face
Kinky hair texture
Nappy hair texture
Afro-textured hair
Hanging skin
Prominent back of the head
Back Pain
Hand deformities
Heart Neoplasm
Kayser-Fleischer ring
Increased body mass index
Clumsiness
Personality change
Indian childhood cirrhosis
Renal tubular defect
Hypersexuality state
Sex addiction
Ceruloplasmin deficiency
Range of joint movement increased
Poor motor coordination
Atypical or prolonged hepatitis
High nonceruloplasmin-bound serum copper
Proximal muscle weakness in lower limbs
Endemic Tyrolean Infantile Cirrhosis
Menstrual abnormalities
Mixed demyelinating and axonal polyneuropathy
Abnormality of the menstrual cycle
Oropharyngeal Neoplasms
Urologic Neoplasms
Dubowitz syndrome
Russell-Silver syndrome
Aarskog syndrome
Williams Syndrome
Robinow Syndrome
Congenital dislocation of radial head
Xeroderma pigmentosum, group F
Cornelia De Lange Syndrome
Carcinoma in situ of endometrium
Congenital malformation syndromes associated with short stature
Globe of eye large
Single transverse palmar crease
Primary microcephaly
Dysmorphic features
Alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder
Cancer of Urinary Tract
Juberg-Marsidi syndrome
Talipes
Facial asymmetry
Chromosome Instability Syndromes
11 pairs of ribs
Sandal gap
SECKEL SYNDROME 2
Absent earlobe
Methylmalonic aciduria cblB type
Large eyes
Ivory epiphyses
Prematurely aged appearance
Small anterior fontanelle
Large basal ganglia
Hypoplasia of proximal radius
Hypoplasia of proximal fibula
Cone-shaped epiphyses of the phalanges of the hand
Abnormal finger flexion creases
Cone-shaped epiphysis
Selective tooth agenesis
SECKEL SYNDROME 5
Infiltrating duct carcinoma of female breast
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
Talipes foot deformities
SECKEL SYNDROME 6
SECKEL SYNDROME 7
SECKEL SYNDROME 4
SECKEL SYNDROME 8
Abnormality of dental enamel
Reduced number of teeth
Tooth agenesis
Absence of a tooth
Dystrophic tooth enamel
Increased size of palpebral fissures
Defective tooth enamel
Herpesviridae Infections
Penile Diseases
Rubinstein-Taybi Syndrome
Thoracic Diseases
Urogenital Abnormalities
Talipes Calcaneovalgus
Epithelioid hemangioendothelioma
Intermittent diarrhea
Protrusion of tongue
Intermittent abdominal pain
Coffin-Lowry syndrome
Adult Synovial Sarcoma
Childhood Synovial Sarcoma
Epithelioid hemangioendothelioma, malignant
Pleomorphic Xanthoastrocytoma
Perimembranous ventricular septal defect
Abnormal hemoglobin finding
Immunodeficiency syndrome, variable
Tapering fingers (finding)
Unilateral Cryptorchidism
Generalized pruritus
Congenital absence of kidney
Alpha-Thalassemia Myelodysplasia Syndrome
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
Mental retardation Smith Fineman Myers type
Abnormality of blood and blood-forming tissues
Pancreatic Endocrine Carcinoma
adult astrocytic tumors
Abdominal Cryptorchidism
Inguinal Cryptorchidism
Paroxysmal bursts of laughter
Triangular nasal tip
Tented upper lip vermilion
Lower limb hypertonia
MENTAL RETARDATION, X-LINKED 52
Tented upper lip
Hypoplastic myelodysplasia
Flat face
Tented mouth
Absent frontal sinuses
U-Shaped upper lip vermilion
Hypoplastic philtrum
Slender finger
Shawl scrotum
Hematopoetic Myelodysplasia
Severe alpha thalassemia
Triple gene defect alpha thalassemia
Hemoglobin H Constant Spring
Hemoglobin H Disease
Hydrops fetalis due to alpha thalassemia
Episodic abdominal pain
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
Abnormality of fontanelles
Reduced alpha/beta synthesis ratio
Childhood Astrocytoma
Aplasia of frontal sinus
Hematological abnormality
Anhidrosis
Hereditary Sensory Autonomic Neuropathy, Type 2
Paronychia Inflammation
Peripheral edema
Hypogeusia
Edema of eyelid
Leg edema
Ankle clonus
Edema of lower extremity
Pain Disorder
Monoparesis - leg
Abnormal ocular motility
Morvan's Disease
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
Acro-Osteolysis
Lower limb spasticity
Cavitation
Dystrophic toenail
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
Lower limb muscle weakness
Lower limb hyperreflexia
Painless fractures due to injury
Impaired saccades
Decreased sensory nerve conduction velocity
PEHO syndrome
Biparietal narrowing
Progressive spastic paraplegia
Episodic hyperhidrosis
Decreased number of peripheral myelinated nerve fibers
Acral ulceration leading to autoamputation of digits
Reduced bone mineral density
Neuropathy, Hereditary Sensory And Autonomic, Type IIA
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
Dystrophic fingernails
Infantile Spasm
Abnormality of the hip bone
Leg muscle stiffness
Atrophy/Degeneration affecting the brainstem
Lower limb amyotrophy
Abnormality of the ankles
Abnormality of the knee
Foot acroosteolysis
Abnormality of saccadic eye movements
Abnormality of upper lip
Decreased width of the skull
Reduced concentration span
3-@METHYLGLUTACONIC ACIDURIA, TYPE I
3-Methylglutaconic aciduria type 1
Easily distracted
Cocaine withdrawal
Cruveilhier-Baumgarten Syndrome
Dysmenorrhea
Dysthymic Disorder
Gliosis
Hypovolemic Shock
Inappropriate ADH Syndrome
Nocturia
Psychosis, Brief Reactive
Shock
Wolfram Syndrome
Emotional Stress
Mixed sensory-motor polyneuropathy
Mild hereditary factor VIII deficiency disease
Familial central diabetes insipidus
Depressed mood
Psychogenic polydipsia
familial alcoholism
Pulmonary Pathology
Eating disorder symptom
Hyponatraemic
Water Stress
Acth-Independent Macronodular Adrenal Hyperplasia
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE
Perinatal depression in mother
Adipsic Diabetes Insipidus
Adrenal hypertrophy or hyperplasia
Agnosia for Pain
ACTH Syndrome, Ectopic
Enuresis
Oliguria
Azotemia
Prerenal uremia syndrome
Genetic Diseases, X-Linked
Hypophosphatemic Rickets
Elevated systolic blood pressure
Decreased circulating renin level
Rickets, X-Linked Hypophosphatemic
Hypernatriuria
Adult Rickets
Adult Leiomyosarcoma
Childhood Leiomyosarcoma
Schwannomatosis, Plexiform
Mesenchymal Glioblastoma
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
Aniridia
Red Blood Cell Count measurement
Constitutional Symptom
Hypoproteinemia
Paraproteinemias
Xerophthalmia
Hemodialysis-associated amyloidosis
Common acute lymphoblastic leukemia
Chronic constipation
Undifferentiated Neuroblastoma
Gastrointestinal dysmotility
Bare Lymphocyte Syndrome, Type I
Radial bowing
Orthostatic hypotension due to autonomic dysfunction
Reproductive tract infection
Keratitis sicca
Neuroepithelioma, Peripheral
Autonomic bladder dysfunction
Autosomal dominant beta2-microglobulinic amyloidosis
Steatorrhea
von Willebrand Disease, Type 3
Hypercholanemia, Familial
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
maternal hyperglycemia
Increased serum bile acid concentration
Color Blindness, Blue
Adrenal Gland Hyperfunction
MRSA - Methicillin resistant Staphylococcus aureus infection
Periampullary Adenocarcinoma
Progressive spastic paraparesis
Empyema
Paramyotonia Congenita (disorder)
Childhood Acute Promyelocytic Leukemia with PML-RARA
Hip joint varus deformity - observation
Pyle metaphyseal dysplasia
Enlarged epiphyses
Protuberant abdomen
Hypoplastic ilia
Delayed mineralization of pubic bone
Delayed pubic bone ossification
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Abnormal vertebral ossification
Abnormality of the epididymis
Pseudoepiphyses of hand bones
Delayed maturation fo pubic bone
Small wings of the pelvic girdle
Abnormality of the fallopian tube
Primary peritoneal carcinoma
Arteriovenous fistula
Morphine Dependence
Osteomyelitis
Other specified senile psychotic conditions
Lichen Planus, Oral
Gastric dysplasia
Rhegmatogenous retinal detachment
Severe hereditary factor VIII deficiency disease
Stage III Colon Cancer
Fibrous bands
Endometrioid carcinoma ovary
Adrenal Cancer
AIDS-Related Primary Effusion Lymphoma
Burkitt-like lymphoma
Type I Endometrial Adenocarcinoma
AIDS-related small noncleaved cell lymphoma
Stage III Colon Cancer AJCC v7
Biliary Tract Diseases
Syndactyly
Polydactyly of toes
Cohen syndrome
Biliary tract abnormality
Poor coordination
Congenital hypoplasia of ovary
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Hypoplastic ovary
Gait imbalance
DIABETES MELLITUS, INSULIN-DEPENDENT, 4
Broad foot
Bardet-Biedl syndrome 1 (disorder)
Congenital cerebral hernia
Congenital anomaly of the kidney
Posterior polar cataract
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 2 (disorder)
BARDET-BIEDL SYNDROME 2/6, DIGENIC
BARDET-BIEDL SYNDROME 2/4, DIGENIC
BARDET-BIEDL SYNDROME 1/2, DIGENIC
RETINITIS PIGMENTOSA 74
Bardet-Biedl syndrome 4 (disorder)
Maple Syrup Urine Disease
Classic Maple Syrup Urine Disease
Intermittent Maple Syrup Urine Disease
Valinemia
Hyperleucine-Isoleucinemia
Maple Syrup Urine Disease, Thiamine Responsive
Intermediate Maple Syrup Urine Disease
Amnestic Disorder
Cocaine intoxication
Tonic-Clonic Epilepsy
Mastodynia
Postoperative Complications
Psychological pseudocyesis
Trismus
Induced apnea
Cocaine-Related Disorders
Masseter Muscle Spasm
Adult-onset obesity
Pseudocholinesterase deficiency
Monoparesis
Lockjaw
Prolonged neuromuscular block
Fasciculation, Skeletal Muscle
Cryptogenic Tonic-Clonic Epilepsy
Epilepsy, Tonic-Clonic, Familial
Epilepsy, Tonic-Clonic, Symptomatic
Fasciculation, Benign
Upper Extremity Paresis
Lower Extremity Paresis
Cardiotoxicity
Gestational Trophoblastic Neoplasms
Pseudocholinesterase Measurement
Butyrylcholinesterase deficiency
Attention deficit-hyperactivity
Suxamethonium sensitivity
Bamforth syndrome
Acholinesterasemia
Apnea, Postanesthetic
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
Hypocholinesterasemia, Fluoride-Resistant, Japanese Type
Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate
Gestational trophoblastic disease
BCHE, FLUORIDE 1 PHENOTYPE
BCHE, FLUORIDE 2 PHENOTYPE
BCHE, K VARIANT PHENOTYPE
BCHE, J VARIANT PHENOTYPE
BCHE, H VARIANT PHENOTYPE
BCHE NEWFOUNDLAND PHENOTYPE
BCHE, SILENT 1 PHENOTYPE
BCHE CYNTHIANA PHENOTYPE
BCHE JOHANNESBURG PHENOTYPE
APNEA, POSTANESTHETIC, DUE TO BCHE, ATYPICAL-1
BCHE, DIBUCAINE-RESISTANT I PHENOTYPE
CHE*70G PHENOTYPE
BCHE*70G PHENOTYPE
BCHE ANN ARBOR PHENOTYPE
CHE*FS117 PHENOTYPE
BCHE*FS117 PHENOTYPE
BCHE, FLUORIDE-RESISTANT I PHENOTYPE
CHE*243M PHENOTYPE
BCHE*243M PHENOTYPE
BCHE, FLUORIDE-RESISTANT II PHENOTYPE
CHE*390V PHENOTYPE
BCHE*390V PHENOTYPE
BCHE, QUANTITATIVE K POLYMORPHISM PHENOTYPE
CHE*539T PHENOTYPE
BCHE*539T PHENOTYPE
BCHE, QUANTITATIVE J VARIANT PHENOTYPE
BCHE, QUANTITATIVE H VARIANT PHENOTYPE
BCHE*FS126 PHENOTYPE
Primary gout
Ketonemia
Maple Syrup Urine Disease, Type IA
MAPLE SYRUP URINE DISEASE, TYPE II
Maple syrup urine disease, type 1B
MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA
Elevated plasma branched chain amino acids
Alzheimer Disease 12
MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB
Apert syndrome
Anus Neoplasms
Cecal Neoplasms
Coxsackievirus Infections
Epithelial hyperplasia
Nodular Goiter
Giant Cell Granuloma
Lichen Sclerosus et Atrophicus
Small Cell Lymphoma
Multiple Endocrine Neoplasia
Ovarian Diseases
High Grade Lymphoma (neoplasm)
Malignant neoplasm of cecum
Malignant tumor of parathyroid gland
Papilloma, Squamous Cell
Thymic Carcinoma
Adenomyoma
Verrucous carcinoma
Nevus, Blue
Epithelioid and spindle cell nevus
Cyclic neutropenia
Metaphyseal chondrodysplasia
Mongolian Spot
Hyperproteinemia
Parathyroid hyperplasia
Virchow's node (disorder)
Non-small cell lung cancer stage III
Adenoid cystic carcinoma of salivary gland
stage, endometrial cancer
Squamous cell carcinoma of vulva
Papillary cystic tumor
Papillary serous cystadenocarcinoma
Malignant lymphoma - lymphoplasmacytic
Endometrial Stromal Tumors
Jaw Keratocyst
Stage 0 Skin Melanoma
Malignant melanoma of ciliary body
Trisomy 11
Leukemia, Prolymphocytic, B-Cell
mantle lymphoma
CARCINOMA OF VULVA
extranodal lymphoma
Serum creatinine raised
hyperparathyroid
psychosocial stressor
impaired motor coordination
premalignant lesion
Bile duct cancer resectable
Synovial sarcoma metastatic
Genomic Instability
Plasma cell dyscrasia
Persistent infection
Cutaneous lymphoma
Atypical polypoid adenomyoma
Adult Diffuse Large B-Cell Lymphoma
Childhood Diffuse Large B-Cell Lymphoma
Gastric Precancerous Condition
Head and Neck Basaloid Carcinoma
Intermediate Grade Ductal Breast Carcinoma In Situ
Low Grade Ductal Breast Carcinoma In Situ
Mature B-Cell Non-Hodgkin Lymphoma
Centrocytic lymphoma
Low Grade Cervical Squamous Intraepithelial Neoplasia
Ductal Breast Carcinoma
Papillary Thyroid Microcarcinoma
Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
HYPERPARATHYROIDISM 1
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERPARATHYROIDISM 3
Peroxisome Biogenesis Disorder, Complementation Group H
Plasma Cell Neoplasm
Endometrial stromal sarcoma, high grade
Adrenal incidentaloma
Monoclonal B-Cell Lymphocytosis
Lentigo maligna melanoma
Endometrial sarcoma
Esophageal Spindle Cell Carcinoma
Palisaded myofibroblastoma
Atopic rhinitis
Melanoma, B16
Cervical dysplasia
Cryoglobulinemia
Dermatitis Herpetiformis
Dyschondroplasias
Folic Acid Deficiency
Leg Ulcer
Leukemia, Mast-Cell
Lichen Planus
Lymphoma, Mixed-Cell
Lymphoma, Undifferentiated
Mastocytoma
Melnick-Needles Syndrome
Night sweats
Cartilaginous exostosis
Parotid Neoplasms
Bullous pemphigoid
Priapism
Rabies (disorder)
Localized scleroderma
Starvation
Thoracic Outlet Syndrome
Tumor Lysis Syndrome
Genitourinary Neoplasms
Lymphoma, Intermediate-Grade
Diffuse Mixed-Cell Lymphoma
Lymphoma, Small Noncleaved-Cell
Lymphoma, AIDS-Related
Codependency
Leiomyoma, Epithelioid
Intracranial Hypertension
Coronary Occlusion
Disuse osteoporosis
Uterine Polyp
Porphyria Cutanea Tarda
Focal Epithelial Hyperplasia
Mesenchymal Chondrosarcoma
Fibroadenoma
Central Neurocytoma
Inverted Papilloma
Adult Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma
Adult Acute Myeloblastic Leukemia
Renal Pelvis and Ureter Urothelial Carcinoma
Pseudolymphoma
Proliferative glomerulonephritis
Primary cerebral lymphoma
Epithelial inclusion cyst
Holt-Oram syndrome
Juvenile hemochromatosis
Muscular Dystrophy, Oculopharyngeal
Myelokathexis
Stage III Breast Cancer AJCC v6
refractory plasma cell neoplasm
Small cell lung cancer limited stage
Childhood T Acute Lymphoblastic Leukemia
Refractory anemia with excess blasts in transformation (clinical)
Intraocular Lymphoma
Myomatous neoplasm
Malignant lymphoma centroblastic, diffuse
Squamous intraepithelial lesion
Intraepithelial Squamous Cell Carcinoma
Squamous cell carcinoma, keratinizing
Synovial sarcoma, spindle cell
Mast Cell Neoplasm
Sebaceous adenocarcinoma of eyelid
Venous hypertension
Essential mixed cryoglobulinemia
Gastric Carcinoid Tumor
Atypical Endometrial Hyperplasia
Laryngeal papillomatosis
Histiocytic Necrotizing Lymphadenitis
Adolescent idiopathic scoliosis
Van Buchem disease
Simple Endometrial Hyperplasia
High grade B-cell lymphoma
Endometrioid tumor
Mixed cryoglobulinemia
Oropharynx (excludes nasopharynx)
Urinary outflow obstruction
gastritis h pylori
Stage I Endometrial Carcinoma
In situ cancer
Recurrent Non-Hodgkin Lymphoma
Non-Hodgkin's lymphoma transformed recurrent
Monocytoid B-cell lymphoma
B Lymphoblastic Lymphoma
Euthymia
Leukoplakia of oral mucosa, incl tongue
Hepatic lymphoma
Low Grade Prostatic Intraepithelial Neoplasia
Follicular non-Hodgkin's lymphoma, large cell
Enterochromaffin-like cell carcinoid
Thymoma, type A
Thymoma, type B2
Angiomyofibroblastoma
Extraskeletal Myxoid Chondrosarcoma
Breast Fibrocystic Change, Proliferative Type
Cutaneous Follicular Lymphoma
Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type
Recurrent Follicular Lymphoma
Paget Disease
carcinoma of the renal pelvis and ureter
Placental dysfunction
High Grade B-Cell Non-Hodgkin's Lymphoma
Morphea
Delayed Graft Function
Atypical Burkitt's lymphoma
Columnar Cell Hyperplasia of the Breast
Keratocystic Odontogenic Tumor
Persistent Polyclonal B-Cell Lymphocytosis
Kaposi's sarcoma-associated herpesvirus infection
Angioma, Cavernous
Sindbis virus infection
Benign Mastocytoma
Chronic idiopathic neutropenia
Pediatric follicular lymphoma
Thrombotic Microangiopathies
Corneal Dystrophy, Subepithelial Mucinous
Non-follicular lymphoma
Fetal Alcohol Spectrum Disorders
Cervix Intraepithelial Neoplasia Grade 3 AJCC v7
Stage III Breast Cancer AJCC v7
Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma
Ulcerative Colitis-Associated Colorectal Adenocarcinoma
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Lymphoma, Diffuse
Pre-renal acute kidney injury
Intestinal-Type Sinonasal Adenocarcinoma
Insulin Sensitivity Measurement
Secondary Peripheral Chondrosarcoma
Rat Adrenal Gland Pheochromocytoma
Monocytic leukemia
Chondroma
Thymus Neoplasms
Lymphoepithelioid lymphoma (clinical)
Immunoproliferative Small Intestinal Disease
Otitis Media with Effusion
Pneumonia, Viral
T-Lymphocytopenia, Idiopathic CD4-Positive
HTLV Infections
Lymphoid interstitial pneumonia
stage, chronic lymphocytic leukemia
Infantile fibrosarcoma
Composite Lymphoma
Post-transplant lymphoproliferative disorder, polymorphic
AIDS-Related Non-Hodgkin Lymphoma
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Sporadic Burkitt's lymphoma
Astler-Coller B1 Rectal Carcinoma
Primary cutaneous large B-cell lymphoma of the leg
Hodgkin lymphoma, nodular lymphocyte predominance
Gastrointestinal Diseases
Epilepsy, Generalized
Idiopathic generalized epilepsy
Familial Epilepsies
Bullous keratopathy
X-linked agammaglobulinemia
Blue/yellow color vision defect
Dichromacy
Abnormal light-adapted electroretinogram
Myeloid Metaplasia
Neurofibromatosis 2
Skin lesion
Premature Birth
Recurrent Adult Acute Lymphoblastic Leukemia
High grade T-cell lymphoma
Oropharyngeal candidiasis
Non-Hematologic Malignancy
Therapy-related myelodysplastic syndrome
Treatment related acute myeloid leukaemia
Chromosome 22q11.2 Deletion Syndrome, Distal
Fetal Diseases
Serum iron raised
Increased serum ferritin
Brittle hair
Pili Torti
Pili torti-deafness syndrome
Adult Fanconi syndrome
Ubiquinone dehydrogenase deficiency
Increased ferritin
Encephalopathy, Subacute Necrotizing, Infantile
Encephalopathy, Subacute Necrotizing, Juvenile
Decreased transferrin saturation
Increased CSF lactate
Abnormal pattern of respiration
Chronic lactic acidosis
Microvesicular hepatic steatosis
Leigh Syndrome due to Mitochondrial Complex III Deficiency
Reduced tensile strength of hair
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
GRACILE SYNDROME (disorder)
Fragile hair
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
Hyperferritinaemia
BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
Elevated hepatic iron concentration
Decreased mitochondrial complex III activity in liver tissue
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
Fractured hair
Amyotrophic Lateral Sclerosis 4, Juvenile
Uncinate Epilepsy
Acute mountain sickness
Epilepsy, Benign Psychomotor, Childhood
Epilepsy, Lateral Temporal
Extravasation of Contrast Media
Extravasation of Diagnostic and Therapeutic Materials
Affective Disorders, Psychotic
Affective Symptoms
Alexithymia
Body Weight
child abuse behavior
Conversion disorder
Dissociative disorder
Eating Disorders
Emotional Disturbances
Fetal Macrosomia
Hyperphagia
Low Back Pain
Oppositional Defiant Disorder
Schizophrenia, Catatonic
Residual schizophrenia
Tinnitus
Violence
Wernicke Encephalopathy
Somatization
Primary dysmenorrhea
Hypertensive Encephalopathy
Rumination Disorders
Other specified manifestations of hyperkinetic syndrome
WAGR Syndrome
Depression, Postpartum
respiratory abnormalities
Chronic abdominal pain
Self-induced vomiting
Feeling despair
Thinking and speaking disturbances
Obsessions
Mania acute
Infectious colitis
Uterine Corpus Sarcoma
Psychotic episodes
Hypothalamic hamartomas
Depressive episode, unspecified
Fetal Hypoxia
Diagnosis, Psychiatric
Compulsive hoarding
Progressive pseudorheumatoid dysplasia
Ichthyosis Bullosa of Siemens
Intrapartum fetal hypoxia
Chronic low back pain
Premenstrual Dysphoric Disorder
Delinquent behavior
Analgesic Overuse Headache
Chronic depression
clinical anxiety
heroin abuse
Emotional abuse
psychiatric hospitalization
Post-Traumatic Vegetative State
Adult-Onset Dystonias
Degeneration of spine
Impulsive aggression
Anxiety symptoms
Adult attention deficit hyperactivity disorder
social stress
Hypersomnia
Vegetative State
High weight
Desmoplastic melanoma
Paranoia
Depression and Suicide
Methamphetamine dependence
Early onset schizophrenia
Native American myopathy
Hypotrichosis simplex
TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding)
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome
Deletion 11p13
Central Nervous System Sensitization
Post stroke depression
Cannabis use
Hypoventilation
Chronic cerebrovascular accident
Acute disseminated encephalitis
Reversible cerebral vasoconstriction syndrome
OTOFACIOCERVICAL SYNDROME 1
Depression in children
Central Apnea
Astrocytosis
Direct Extension
Displacement of the external urethral meatus
Aplasia/Hypoplasia of the iris
Hearing abnormality
Feeding and Eating Disorders
Heroin Smoking
Necrotizing Ulcerative Gingivitis
Anterior uveitis
Postpartum Thyroiditis
Bacterial sepsis
Acute anterior uveitis
Recurrent meningococcal disease
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
Atypical Hemolytic Uremic Syndrome
MACULAR DEGENERATION, AGE-RELATED, 14
MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF
COMPLEMENT FACTOR B DEFICIENCY
Decreased serum complement factor B
C3 Glomerulonephritis
Nuclear cataract
Nuclear non-senile cataract
Cataract, posterior polar, 3
Cataract, Cortical, Juvenile-Onset
CATARACT 33, MULTIPLE TYPES
Osteoarthritis of hip
Osteoarthropathy, Primary Hypertrophic
Idiopathic osteoporosis
Saethre-Chotzen Syndrome
Ossifying Fibroma
Warfarin syndrome
Ocular Cicatricial Pemphigoid
Primary testicular failure
Osteofibrous Dysplasia
SPINOCEREBELLAR ATAXIA 29
Dental fluorosis
Craniofacial Dysostosis
Dissecting aortic aneurysm
Polyostotic fibrous dysplasia
Urinary Stress Incontinence
Cleft uvula
Idiopathic crescentic glomerulonephritis
Scleroatonic muscular dystrophy
Radial deviation of hand
Short phalanx of finger
Short metacarpal
Posterior rib cupping
Flat acetabular roof
PROPERDIN DEFICIENCY, X-LINKED
Delayed ossification of carpal bones
Broad metacarpals
Spondyloepimetaphyseal Dysplasia, X-Linked
Narrow pelvis bone
Long ulna
Long fibula
Short long bone
Broad phalanx
Cone-shaped metacarpal epiphyses
Craniofacial dysostosis type 1
Anterior wedging of T12
Anterior wedging of T11
Broad long bone diaphyses
Cone-shaped epiphyses fused within their metaphyses
Prominent styloid process of ulna
Delayed maturation of wrist bone
MEESTER-LOEYS SYNDROME
Transitional cell carcinoma in situ
Serum selenium measurement
Opisthorchis Viverrini-Related Cholangiocarcinoma
Acute periodontitis
Truncus Arteriosus, Persistent
Neoplasms, Second Primary
Indifference to Pain, Congenital, Autosomal Recessive
Cytokine Measurement
Maturity-onset diabetes of the young, type 11
Rothmund-Thomson syndrome
Hand polydactyly
High pitched voice
developmentally delayed
Prominent ear
DERMATITIS HERPETIFORMIS, FAMILIAL
Agenesis of maxillary lateral incisor
Protruding ear
Spotty hypopigmentation
Spotty hyperpigmentation
Hypoplasia of the zygomatic bone
Facial telangiectasia in butterfly midface distribution
Small cheekbone
Absent upper lateral incisors
Atypical Werner syndrome
Hypotrophic cheekbone
Flattening of the zygomatic bone
Depressed cheekbone
Germ Cell Cancer
Biliary Cirrhosis, Secondary
Genital infection
HYPERBILIVERDINEMIA
Overnutrition
Nutrition Disorders
Cervical polyp
Wasting
Thrombocytopenia due to platelet alloimmunization
Poikiloderma of Kindler
Mantle cell lymphoma refractory
Basal-Like Breast Carcinoma
Langer-Giedion Syndrome
Epidermolysis Bullosa Dystrophica
Osteoid formation disorder
Osteogenesis imperfecta type III (disorder)
Pneumocystis Infections
OSTEOGENESIS IMPERFECTA, TYPE XIII
Fracture
Otosclerosis
Acrocephaly
Root Resorption
Somatotropin deficiency
Fracture, spiral
Benign neoplasm of lung
Idiopathic osteoarthritis
Sagittal craniosynostosis
Generalized osteoarthritis
BRACHYDACTYLY, TYPE A2
Synostotic Posterior Plagiocephaly
Aplasia/Hypoplasia of the middle phalanx of the 5th finger
Short middle phalanx of the 5th finger
Radial deviation of the 2nd finger
Ulnar deviation of the 2nd finger
Brachydactyly type A3
Short 2nd finger
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
Medially deviated second toe
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE
Broad hallux
Synostotic Anterior Plagiocephaly
Narrowing
Aplasia/Hypoplasia of the middle phalanges of the toes
Triangular shaped middle phalanx of the 2nd finger
Bracket epiphysis of the middle phalanx of the 2nd finger
Bracket epiphysis of the middle phalanx of the 5th finger
Triangular shaped middle phalanx of the 5th finger
20p12.3 microdeletion syndrome
Agenesis
Bronchiolitis Obliterans
Mucopolysaccharidosis I
Musculoskeletal Diseases
Hyperphosphatemia (disorder)
Unilateral agenesis of kidney
5,10-Methylenetetrahydrofolate reductase deficiency
Microprolactinoma
Macroprolactinoma
Senile sclerosis of aortic cusp
Small scrotum
Other congenital malformations of anterior segment of eye
Cleft face
Cleft Palate-Lateral Synechia Syndrome
Barrett Epithelium
Hypertrophic obesity
Non-Neoplastic Urinary System Disorder
Dysmorphism
Cleft Lip, Congenital Healed
Cystic renal dysplasia
Uplifted earlobe
MICROPHTHALMIA, SYNDROMIC 6 (disorder)
Frias syndrome
orthopedic disorders
OROFACIAL CLEFT 11
AXENFELD-RIEGER SYNDROME, TYPE 3
Congenital anomaly of anterior segment of eye
Sclerosteosis
Vital Capacity Adverse Event
Femoral Fractures
Sirenomelia
Spinal Stenosis
Degenerative spondylolisthesis
Corneal fibrosis
Adult Kidney Wilms Tumor
Childhood Kidney Wilms Tumor
Ebstein Anomaly
Bannayan-Riley-Ruvalcaba Syndrome
Anomalous atrioventricular excitation
Arnold-Chiari Malformation, Type I
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1
JUVENILE POLYPOSIS OF STOMACH
BRACHYDACTYLY, TYPE A1 (disorder)
Polyposis Syndrome, Hereditary Mixed, 2
Chromosome 10q23 Deletion Syndrome
COLORECTAL CANCER, SUSCEPTIBILITY TO, 4
COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 15
Bmpr1a-Related Juvenile Polyposis
Smad4-Related Juvenile Polyposis
Familial Colorectal Cancer Type X
Juvenile colonic polyposis
Limb Deformities, Congenital
Ulnar deviation of the fingers
Short finger
Chondrodysplasia, Grebe type
Tarsal Coalition
Infantile uterus
Chondrodysplasia
Carpal synostosis
Thumb deformity
Brachydactyly syndrome type C
Fibular hypoplasia
Chondrodysplasia, acromesomelic, with genital anomalies
Short femoral neck
Fibular aplasia
Widened proximal tibial metaphyses
Aplasia/Hypoplasia involving the metacarpal bones
Short toe
Hypoplastic finger
Short middle phalanx of finger
Short metatarsal
Short tibia
Short proximal phalanx of thumb
Bowing of the long bones
Aplasia/Hypoplasia of the fibula
Fibular hypoplasia and complex brachydactyly
Short proximal phalanx of finger
Bilateral single transverse palmar creases
Short distal phalanx of the thumb
Acromesomelic dysplasia Hunter-Thompson type
Aplasia/Hypoplasia of the thumb
SYMPHALANGISM, PROXIMAL, 1A
Pinched nasal bridge
Aplasia of the proximal phalanges of the hand
Complete duplication of distal phalanx of the thumb
Short distal phalanx of the 2nd finger
Pseudoepiphyses of the 2nd finger
Aplasia of the middle phalanges of the toes
Aplasia/Hypoplasia of the 1st metacarpal
Stippling of the epiphysis of the distal phalanx of the thumb
Abnormality of tibia morphology
Abnormality of the radius
BRACHYDACTYLY, TYPE A1, D
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
Pinched bridge of nose
Eisenmenger Complex
Hemoptysis
Pulmonary arterial hypertension induced by drug
Raised jugular venous pressure
Vascular occlusion
Pulmonary arterial medial hypertrophy
Elevated right atrial pressure
Increased pulmonary vascular resistance
Pulmonary artery vasoconstriction
PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED
Pulmonary Hypertension, Primary, Fenfluramine-Associated
Chronic thromboembolic pulmonary hypertension
Right ventricular failure
Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia
PULMONARY VENOOCCLUSIVE DISEASE 1
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT
Intimal fibrosis
Arterial intimal fibrosis
Pulmonary aterial intimal fibrosis
Abnormal thrombosis
Pulmonary venous occlusion
Trichoepithelioma
Manganese Poisoning
Epidermolysis Bullosa
Hereditary Sensory and Autonomic Neuropathies
Epidermolysis Bullosa Simplex Kobner
Junctional Epidermolysis Bullosa
Skin Diseases, Bullous
Atrophic scar
Tuberculosis, Drug-Resistant
Alacrima
Autoimmune skin disease
Inherited neuropathies
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
Limited hip extension
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
Elevated heart rate
Blotching pigmentation of the skin
Duane Retraction Syndrome
Eyelid Diseases
Gynandroblastoma
Hemorrhagic ascites
Thecoma
Disorder of endocrine ovary
Sertoli-Leydig Cell Tumor
Sex Cord-Stromal Tumor
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
Mobius Syndrome
Secondary physiologic amenorrhea
Congenital anomaly of eyelid
Deformity
Malignant Granulosa Cell Tumor
Ovarian gynandroblastoma
Gonadotroph adenoma
Stromal tumor of ovary
Limb defects
Cellular fibroma
Epicanthus inversus
Sertoli-Leydig cell tumor of intermediate differentiation
Adult Type Ovarian Granulosa Cell Tumor
Granulosa Cell Cancer
Null Cell Pituitary Gland Adenoma
PREMATURE OVARIAN FAILURE 3 (disorder)
Cupped ears (finding)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II WITH DUANE RETRACTION SYNDROME
BPES, TYPE I
BPES, TYPE II
Bpes With Ovarian Failure
Bpes Without Ovarian Failure
Bpes With Duane Retraction Syndrome
Increased circulating gonadotropin level
Adult Type Granulosa Cell Tumor
Ovarian Thecoma
Bpes, Type I, Autosomal Recessive
Blepharophimosis syndrome type 1
Blepharophimosis syndrome type 2
Blepharophimosis, Ptosis, and Epicanthus Inversus Type II
Microcystic stromal tumor
Capuchin ears
Abnormality of the breast
Familial erythrocytosis
Deficiency of bisphosphoglycerate mutase
Septicaemia due to gram-negative organism, unspecified
Fallopian Tube Neoplasms
Nonproliferative fibrocystic disease
Genital Neoplasms, Female
Mouth Diseases
Mucocele of appendix
Peritoneal Neoplasms
Thrombasthenia
Adenosis of Breast
Malignant neoplasm of abdomen
Stage 0 Breast Carcinoma
Familial Atypical Multiple Mole-Melanoma
Sebaceous Adenocarcinoma
Difficulty sleeping
adnexal lesion
Xeroderma pigmentosum, group G
Behavioral tic
Carcinoma breast stage I
Breast cancer stage II
Lobular carcinoma in situ of breast
Chromosome Breaks
Non-infiltrating lobular carcinoma
Benign neoplasm of breast
Secondary malignant neoplasm of pancreas
Occult carcinoma
Malignant neoplasm of appendix
Chronic fatigue
Emotional problems
Malignant Female Reproductive System Neoplasm
Postsurgical menopause
Radiation-Induced Cancer
Pelvic Cancer
Medullary carcinoma of breast
Carcinoma of peritoneum
Stage IV Esophageal Squamous Cell Carcinoma
Atypical medullary carcinoma
Primary malignant neoplasm of appendix
Hereditary Ovarian Carcinoma
Locally Metastatic Malignant Neoplasm
Metaplastic breast carcinoma
Breast Microglandular Adenosis
FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP J
BREAST CANCER 3
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE II
malignant neoplasm of breast stage I
Li-Fraumeni-Like Syndrome
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
Riddle Syndrome
Multifocal breast carcinoma
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
FANCONI ANEMIA, COMPLEMENTATION GROUP E
Contralateral Breast Carcinoma
PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
TUMOR PREDISPOSITION SYNDROME
Functional intestinal obstruction
High Grade Ovarian Serous Adenocarcinoma
Bundle-Branch Block
Cerebellar Neoplasms
Bile duct adenoma
Anomalous pulmonary artery
Conjunctival Neoplasms
Cystadenoma, Mucinous
Eye Neoplasms
Factor XII Deficiency
Freckles
Hyperprolactinemia
Infratentorial Neoplasms
Mandibular Neoplasms
Pancreatic Cyst
Panniculitis
Papilledema
Senile lentigo
Skin nodule
Struma Ovarii
Juvenile Xanthogranuloma
Granuloma Annulare
Pyogenic granuloma
Hutchinson's Melanotic Freckle
Sprengel deformity
Malignant Uterine Corpus Neoplasm
Secondary malignant neoplasm of skin
Acquired cubitus valgus
Sarcoma, Spindle Cell
Lymphangioma, Cystic
Papillary and follicular adenocarcinoma
Neurofibrosarcoma
Melanoma, Amelanotic
Bitemporal Hemianopia
Lytic lesion
Neck webbing
Premature birth of newborn
Dermatitis acneiform
Pulmonary artery stenosis
Winged scapula
Compound nevus of skin
Open Bite
Actinic cheilitis
Perianal fistula
Adult Angiosarcoma
Childhood Brain Stem Glioma
Metastatic papillary thyroid carcinoma
Adult Craniopharyngioma
Stage III Cutaneous Melanoma AJCC v6
Childhood Solid Neoplasm
Gallbladder adenocarcinoma
Hairy cell leukaemia recurrent
Adult Solid Neoplasm
Ovarian Teratoma
Squamous cell carcinoma of lip
Adult Pilocytic Astrocytoma
Malignant tumor, fusiform cell type
Adenocarcinoma, intestinal type
Tubular adenoma
Tubulovillous adenoma
Serous cystadenoma, borderline malignancy
Struma ovarii, malignant
Hypophysitis
Pituitary gland enlarged
Adenoma of lung
Syringocystadenoma
Acral Lentiginous Malignant Melanoma
Malignant melanoma of conjunctiva
Malignant melanoma of iris
Malignant melanoma of choroid
Amelanotic Skin Melanoma
Pilocytic astrocytoma of cerebellum
Histiocytic syndrome
Sebaceous hyperplasia
Syringocystadenoma Papilliferum
Fine hair
Papillary craniopharyngioma
Adamantinous Craniopharyngioma
Absent eyebrow
Submucous cleft of hard palate
Abnormal dermatoglyphic pattern
Desmoplastic infantile astrocytoma
Electrocardiogram abnormal
Curly hair (finding)
Madarosis of eyebrow
Excessive daytime somnolence
Multiple nevi
Central nervous system lesion
Craniopharyngioma, Child
Rathke Cleft Cysts
MOHR-TRANEBJAERG SYNDROME
Visual Pathway Glioma
endocrine carcinoma
caruncle
Abnormal visual field test
Colorectal cancer recurrent
Electrocardiographic changes
Abnormal platelet function
Malignant melanoma, metastatic
Secondary Adrenal Insufficiency
Chromosome 17 trisomy
Nevus cell nevus
Dendritic Cell Sarcoma, Follicular
Dendritic Cell Sarcoma, Interdigitating
Neoplasm of temporal lobe
Metanephric adenoma
Papillary microcarcinoma
Dysembryoplastic neuroepithelial tumor
Cardio-facio-cutaneous syndrome
Hashimoto-Pritzker syndrome
Desmoplastic spindle and epithelioid cell melanocytic nevus of skin
Myopericytoma
Eruptive melanocytic nevi
Non-toxic nodular goiter
Congenital melanocytic nevus
Desmoplastic infantile ganglioglioma
Multiple lentigines
Adenocarcinoma of the gastroesophageal junction
Barrett's Adenocarcinoma
Congenital Mesoblastic Nephroma
Childhood Ganglioglioma
Chronic Myelomonocytic Leukemia-1
Colorectal Villous Adenoma
Histiocytic and Dendritic Cell Neoplasm
Intracranial Melanoma
Meningeal melanoma
Metastatic Malignant Peripheral Nerve Sheath Tumor
Optic Nerve Astrocytoma
Benign Struma Ovarii
Desmoplastic
Pilomyxoid astrocytoma
Female Pseudo-Turner Syndrome
Dendritic cell neoplasm
Langerhans cell histiocytosis of lung
Colorectal Signet Ring Cell Carcinoma
Papillary carcinoma, clear cell
Abnormal heart beat
Wide spaced nipples
Tongue thrusting
Slow-growing hair
ECG abnormality
Shield chest
Partial to total absence of eyelashes
Thickened helices
Broad chest
Absent eyelashes
Hyperextensibility of the finger joints
Abnormality of coagulation
Frontal lobe hypoplasia
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
Numerous nevi
Anterior creases of earlobe
NEPHROTIC SYNDROME, TYPE 3
Slow decrease in visual acuity
Deep palmar crease
Familial Hypertrophic Cardiomyopathy Type 4
Aplasia/Hypoplasia of the corpus callosum
Multiple palmar creases
Multiple plantar creases
Sparse to absent eyelashes
Superior pectus carinatum
Pectus excavatum of inferior sternum
Failure to thrive in infancy
Limb-girdle muscular dystrophy type 2A
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
ASTROCYTOMA, LOW-GRADE, SOMATIC
Optic nerve dysplasia
Urachal adenocarcinoma
Stage III Cutaneous Melanoma AJCC v7
Papillary tumor of the pineal region
Intramucosal Adenocarcinoma
NOONAN SYNDROME 7
LEOPARD SYNDROME 3
Abnormality of aortic valve
Primary acquired melanosis
Serrated polyp
Filiform Serrated Adenoma
Colorectal Serrated Adenocarcinoma
Decreased visual acuity, slowly progressive
Serrated adenocarcinoma
Familial Nonmedullary Thyroid Cancer
Sparse or absent eyelashes
Low Grade Ovarian Serous Adenocarcinoma
Secondary hypothyroidism
Ovarian low malignant potential tumour
Follicular Variant Thyroid Gland Papillary Carcinoma
CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 4
Low grade serous carcinoma
Nevus sebaceous
Nodular thyroid disease
Familial Nonmedullary Thyroid Gland Carcinoma
Mucosal Melanoma
Childhood Langerhans Cell Histiocytosis
Adult Langerhans Cell Histiocytosis
Defective or absent horizontal voluntary eye movements
Submucous clefting
Enlarged thorax
Abnormal hypothalamus morphology
Intracranial cystic lesion
Severe sensorineural hearing impairment
Neoplasm of the anterior pituitary
Abnormal hair quantity
Hypomelanotic macule
Reduced factor XIII activity
Progressive visual field defects
Trichodysplasia
Abnormality of the spleen
Abnormality of the mitral valve
Scapular weakness
Aplasia of eyebrows
Agenesis of eyebrows
Baby eczema
Aplasia of eyelashes
Failure of development of eyelashes
Brachial Amyotrophic Diplegia
Esophageal Atresia
Tracheoesophageal Fistula
Neoplasms, Bone Tissue
Ovarian cancer stage III
PITUITARY DWARFISM I
Undifferentiated carcinoma of ovary
Malignant tumor of exocrine pancreas
Carcinosarcoma of ovary
Short palpebral fissure
Pancreatic adenocarcinoma metastatic
BRCA1 Syndrome
Hereditary Non-Polyposis Colon Cancer Type 2
Spinal Cord Embryonal Tumor, Not Otherwise Specified
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
Bone marrow hypocellularity
Esophageal atresia with or without tracheoesophageal fistula
Familial Atypical Mole Melanoma Syndrome
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
Aplasia/Hypoplasia of the radius
GLIOMA SUSCEPTIBILITY 3
Bilateral Wilms Tumor
Antley-Bixler Syndrome, Autosomal Dominant
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
Chromosomal breakage induced by crosslinking agents
Almond-shaped palpebral fissure
Radial club hand
Familial malignant neoplasm of pancreas
Acephalic spermatozoa
SPERMATOGENIC FAILURE 21
Odontogenic Cysts
Early Hepatocellular Carcinoma
Chikungunya Fever
Zoonoses
Conjunctivitis
Multiple Carboxylase Deficiency
Organic aciduria
Holocarboxylase Synthetase Deficiency
Diffuse cerebral atrophy
Perioral eczema
Recurrent skin infections
Multiple Carboxylase Deficiency, Juvenile-Onset
Diffuse cerebellar atrophy
Metabolic Ketosis
Conjunctivitis, recurrent
Fanconi-Bickel Syndrome
Choroidal Neovascularization
Spinal Cord Vascular Diseases
Spinal Cord Ischemia
Cleidocranial Dysplasia
Hyperphosphatasemia with bone disease
Gastrointestinal mucositis
Pyrophosphate arthritis
Peri-Implantitis
Carcinoma, diffuse type
Arthritis, Infectious
Arthus Reaction
Cellulitis
Chronic gingivitis
Epididymitis
Nasal congestion (finding)
Cor pulmonale
Pyoderma
Skin Diseases, Bacterial
X-linked hypogammaglobulinemia
Glossoptosis
Hyper-IgM Immunodeficiency Syndrome, Type 1
Anti-polysaccharide antibody deficiency
Autosomal agammaglobulinemia with absent B-cells
Humoral immune defect
Autosomal recessive agammaglobulinemia
Panhypogammaglobulinemia
Agammaglobulinemia, non-Bruton type
Enteroviral hepatitis
Small lymph nodes
Enteroviral dermatomyositis syndrome
HYPOAGAMMAGLOBULINEMIA, X-LINKED
Recurrent cutaneous abscess formation
Recurrent enteroviral infections
Lymph node hypoplasia
Infected joint
Posterior displacement of the tongue
Ascites
Warburton Anyane Yeboa syndrome
COLORECTAL CANCER WITH CHROMOSOMAL INSTABILITY
Increased nuchal translucency
Neoplasms, Embryonal and Mixed
Gingival Carcinoma
Short sternum
Cancer, Embryonal
Cancer, Embryonal and Mixed
Triangular mouth
Hypodysplasia of the corpus callosum
Cerebral hypoplasia
PREMATURE CHROMATID SEPARATION TRAIT
Microlissencephaly
Chromosomal mosaicism due to mitotic instability
Severe Congenital Microcephaly
Hypoplastic sternum
Premature chromatid separation
Separation Anxiety Disorder
Allergic Conjunctivitis
Prune Belly Syndrome
Ulceration of colon
Fulminant Hepatic Failure with Cerebral Edema
Hepatic Stupor
Stromal keratitis
Separation anxiety disorder of childhood
Chronic Liver Failure
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
Laryngeal Edema
Edema of the tongue
Edema of pharynx
SLE-like symptoms
Acute edema
Symptomatic dermographism
Hereditary C1 esterase inhibitor deficiency - deficient factor
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
Facial edema
allergic symptom
Intestinal edema
Complement Component 4, Partial Deficiency Of
Hereditary Angioedema Type II
Vasculitic neuropathy
Hereditary Angioedema Types I and II
Hereditary Angioedema Type I
Edema of dorsum of hand
Edema of dorsum of hands and feet
Acquired angioedema
COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR
Abnormality of the larynx
Abnormality of salivation
Limbal edema
Immune Complex Diseases
Lupus Erythematosus, Cutaneous
Recurrent infections
Decreased serum complement factor I
SYSTEMIC LUPUS ERYTHEMATOSUS 16
Antibody Deficiency Syndrome
Gingival Hemorrhage
Gingival Recession
Premature tooth loss
Ehlers-Danlos Syndrome, Type VIII
Complement deficiency disease
Early tooth exfoliation
Thin skin
Tooth absent
Anodontia of Permanent Dentition
Poor wound healing
Atrophy of alveolar ridges
Palmoplantar cutis laxa
COMPLEMENT COMPONENT C1r/C1s DEFICIENCY
Flattening of alveolar margin
Flattening of alveolar processes of jaw
Alveolar bone loss around teeth
Fragile skin
Complement Component C1s Deficiency
Abnormality of complement system
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
Dermatomyositis, Childhood Type
COMPLEMENT COMPONENT 2 DEFICIENCY
Pemphigus
Purpura, Thrombotic Thrombocytopenic
Vasculitis, Hemorrhagic
Rheumatoid Purpura
Purpura, Nonthrombocytopenic
Vasculitis of the skin
Pemphigus Foliaceus
Purpura Hemorrhagica
C3 DEFICIENCY
Immune complex nephritis
Metastatic Malignant Neoplasm to the Leptomeninges
Decreased serum complement C3
Macular Degeneration, Age-Related, 9
Complement C3 Measurement
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
Decreased serum complement C4b
Complement Component 4a Deficiency
Salt-losing congenital adrenal hyperplasia
Bernard-Soulier Syndrome
Fatal Familial Insomnia
Van der Woude syndrome
Vitreous Hemorrhage
Peripheral retinal neovascularization
Vitreoretinopathy
Posterior retinal neovascularization
Large hyperpigmented retinal spots
Meningococcal meningitis
Meningococcemia
Basophilic leukemia
Complement component 5 deficiency
Gonococcal arthritis dermatitis syndrome
Intractable diarrhea
Recurrent meningitis
Primary Peritonitis
Secondary Peritonitis
ECULIZUMAB, POOR RESPONSE TO
Generalized seborrheic dermatitis
Bronchopneumonia
Mesangial proliferative glomerulonephritis
Transient myocardial ischemia
Mannose-Binding Protein Deficiency
Complement Component 6 Deficiency
Factor VIII Deficiency
Complement Component 7 Deficiency
C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL
Pachymeningitis
Neisseriaceae Infections
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I
C8 deficiency
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
Recurrent Neisserial infections
Facial Dermatoses
Favre-Racouchot Syndrome
Opioid-Related Disorders
Opioid abuse
Nodular Elastoidosis
Opiate Addiction
Meningitis, Meningococcal, Serogroup A
Meningitis, Meningococcal, Serogroup B
Meningitis, Meningococcal, Serogroup C
Meningitis, Meningococcal, Serogroup Y
Meningitis, Meningococcal, Serogroup W-135
C9 Deficiency
MACULAR DEGENERATION, AGE-RELATED, 15
Decreased serum complement C9
QRS complex feature
Phospholipid measurement
Total iron binding capacity function
Fatty acid measurement
Iron binding capacity total measurement
Arachidonic acid measurement
Invasive meningococcal disease
Scleral staphyloma
Amyotrophic Lateral Sclerosis With Dementia
Narrow sacrosciatic notch
Proximal femoral metaphyseal irregularity
Thoracic hypoplasia
Spondylometaphyseal dysplasia, axial
RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
Serum zinc measurement
CARBONIC ANHYDRASE I, GUAM
CARBONIC ANHYDRASE I DEFICIENCY
Tooth Abnormalities
Aseptic necrosis
Fibrillation
Compression of optic nerve
Abnormal mental state
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
Aseptic Necrosis of Bone
Bone infarction
Acute interstitial pneumonia
Extramedullary erythropoiesis
Basal ganglia calcification
Non-specific brain syndrome
Peroxisome Biogenesis Disorder, Complementation Group C
Cranial hyperostosis
Elevated serum acid phosphatase
Renal tubular acidosis, distal, type 3
Periodic hypokalemic paresis
Abnormality of the renal tubule
Thick skull bones
Excessive growth of skull bones
Hypertrophy of cranial bones
Enlargement of skull bones
Retinitis Pigmentosa 17
Ketonuria
Ketoacidosis
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
Decayed, Missing, and Filled Teeth
Paraneoplastic Cerebellar Degeneration
Dialysis disequilibrium syndrome
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
Acidosis
Vulvar Neoplasms
Malignant neoplasm of vulva
Hyperkalemia
Bilateral glaucoma
Isolated hyperchlorhidrosis
Central areolar choroidal sclerosis
Adult-Onset Vitelliform Macular Dystrophy
Akinetic Petit Mal
Esotropia
Myotonia
Spinocerebellar Degeneration
Symptomatic torsion dystonia
Fragments of torsion dystonia
Titubation
Hallucinations, Auditory
Marie Cerebellar Ataxia
Nystagmus, End-Position
Cerebellar Ataxia, Late Onset
Idiopathic familial dystonia
Idiopathic non-familial dystonia
Other forms of migraine
Downbeat nystagmus
Anticipation, Genetic
Staggering gait
Cerebellar vermis atrophy
Epilepsy, Absence, Atypical
Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 4
Episodic ataxia type 1
MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA
Saccadic smooth pursuit
Impaired smooth pursuit
Vestibular dysfunction
Abnormal visual pursuit
Enlarged cisterna magna
Spinocerebellar tract degeneration
Infantile nystagmus
Episodic Ataxia, Type 7
Benign paroxysmal torticollis of infancy
EPISODIC ATAXIA, TYPE 2, AND EPILEPSY
Abnormal vestibulo-ocular reflex
Difficulty making arithmetical calculations
Childhood Absence Epilepsy
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
Juvenile Absence Epilepsy
Organic writer's cramp
Head tremor
Axial dystonia
DYSTONIA 23
Familial Periodic Paralysis
Shortened QT interval
Hyperkalemic periodic paralysis
Fasting Hypoglycemia
Reactive hypoglycemia
Chronic atrial fibrillation
periodic paralysis (finding)
Timothy syndrome
Cutaneous syndactyly
Potassium sensitive periodic paralysis
Short Qt Syndrome
Brugada Syndrome 3
Ventricular Fibrillation, Paroxysmal Familial, 1
Myotonic periodic paralysis (familial)
Normokalemic paralysis (familial)
EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION
response to anticoagulant
J wave
Auriculo-Ventricular Dissociation
Heart Block
Sick Sinus Syndrome
Metabolic alkalosis
Second degree atrioventricular block
Complex partial seizure with impairment of consciousness
Hyperinsulinemic hypoglycemia
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
Abnormal circulating renin
EMG: impaired neuromuscular transmission
Focal myoclonic seizures
Albinism
Retinal depigmentation
Ocular albinism, type II
Mixed Oligodendroglioma-Astrocytoma
Achromasia
Hypoplasia of optic disc
Severe visual impairment
Oguchi disease
CONE-ROD DYSTROPHY, X-LINKED, 3
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)
Foveal hypoplasia (finding)
Abnormal light- and dark-adapted electroretinogram
Night Blindness, Congenital Stationary, Type 1A
Night blindness, congenital stationary, type 1
Night blindness, stationary
X-Linked Csnb
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE
Cone-rod synaptic disorder, congenital nonprogressive
Complete congenital stationary night blindness
Dull foveal reflex
Difficulty adjusting from light to dark
Incomplete congenital stationary night blindness
Palpitations
Urinary Retention
Thyrotoxicosis with toxic single thyroid nodule
Toxic multinodular goiter
Respiratory Depression
Hyperkalemia, diminished renal excretion
Dropped beats - heart
Congenital Thrombotic Thrombocytopenic Purpura
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1
Malignant hyperthermia susceptibility type 5
Hypokalemic periodic paralysis type 1
Increased intramyocellular lipid droplets
Episodic hypokalemia
Transient hypophosphatemia
Episodic flaccid weakness
Sarcoidosis, Pulmonary
Anti-Glomerular Basement Membrane Disease
Alport Syndrome
West Syndrome
Short QT Syndrome 1
Amelogenesis imperfecta nephrocalcinosis
Neonatal thrombocytopenia (disorder)
Brugada Syndrome 4
Generalized Nonconvulsive Seizure Disorder
Epilepsy, Atonic
Epilepsy, Tonic
Juvenile Myoclonic Epilepsy
Symptomatic Generalized Epilepsy
Generalized convulsive epilepsy
Epilepsy, Akinetic
Panayiotopoulos Syndrome
EPISODIC ATAXIA, TYPE 5
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6
Premature ventricular contractions
Carnitine palmitoyl transferase 2 deficiency
Carnitine-Acylcarnitine Translocase Deficiency
Cardiopulmonary Arrest
Elevated plasma acylcarnitine levels
Abnormality of skeletal muscles
Missed heartbeat
Coronary Thrombosis
Hemoglobin F Disease
Thalassemia Minor
Schistocytosis
Broad-based gait
Non-ST elevation (NSTEMI) myocardial infarction
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1
Anisopoikilocytosis
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
Adenofibroma
Atrial myxoma
Sarcomatoid Mesothelioma
Mesothelioma, biphasic, malignant
CATARACT, MARNER TYPE
Peritoneal Surface Malignancy
Supravalvular aortic stenosis
Cervical Migraine Syndrome
Neck Pain
Endocrine Gland Neoplasms
Hemicrania migraine
Multiple Endocrine Neoplasia Type 2b
Milk-Alkali Syndrome
Chronic peritoneal effusion (disorder)
Migraine Variant
Injury wounds
Wounds and Injuries
Foot Ulcer
Lesion of Sciatic Nerve
Idiopathic urticaria
Sciatic Neuritis
Lingual Thyroid
Abdominal Migraine
C cell tumor
Status Migrainosus
Multinodular goiter
Congenital diverticulum of pharynx
Down Syndrome, Partial Trisomy 21
Trisomy 21, Meiotic Nondisjunction
Acute Confusional Migraine
Sick Headaches
Trisomy 21, Mitotic Nondisjunction
Neuralgia-Neuritis, Sciatic Nerve
Sciatic Nerve Palsy
Pain during injection
Chordoid Glioma of the Third Ventricle
Neoplastic C-Cell Hyperplasia
Familial medullary thyroid carcinoma
THYROID CARCINOMA, SPORADIC MEDULLARY
TROPICAL CALCIFIC PANCREATITIS
Transformed migraine
Ovarian Small Cell Carcinoma
Traumatic injury
Hypocalciuric hypercalcemia
Research-Related Injuries
Multiple endocrine neoplasia Type 2
Speech and language disorder
Primary osteoporosis
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15
Uterine Prolapse
Endometrial Diseases
Phencyclidine Abuse
African Trypanosomiasis
Phencyclidine-Related Disorders
X-linked hydrocephalus syndrome
Familial ventricular tachycardia
Paroxysmal familial ventricular fibrillation
Specific language impairment
Idiopathic scoliosis
MASA SYNDROME (disorder)
CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III
Quebec platelet disorder
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
Stress-induced polymorphic ventricular tachycardia
Adult onset autosomal dominant leukodystrophy
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
Cardiac arrest in children
LONG QT SYNDROME 14
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Reticuloendotheliosis, X-linked
LONG QT SYNDROME 15
Melanoma, Cloudman S91
Melanoma, Harding-Passey
Melanoma, Experimental
Onchocerciasis
Scarlet Fever
Vitamin B 12 Deficiency
Congenital heart block
Amaurosis Fugax
Prolonged bleeding time
Arterial thrombosis
Oculocutaneous albinism type 1
Insulin resistance - type A
Neoplasm of ampulla of Vater
Neonatal Systemic lupus erythematosus
Reactive thrombocytosis
Abnormal platelet morphology
Achalasia
Impaired platelet aggregation
Thrombocytosis, Autosomal Dominant
Isolated Congenital Heart Block
Increased megakaryocyte count
Nicotine withdrawal
TDP-43 Proteinopathies
Severe alcohol dependence
Papillon-Lefevre Disease
Rosacea
Streptococcal Infections
Tinea Capitis
Diabetic Foot
Fetid chronic bronchitis
Chronic neutropenia
lung cavity
Diabetic foot ulcer
Generalized periodontitis
Severe periodontitis
Acute recurrent pancreatitis
Retrobulbar Neuritis
Sore to touch
Montreal platelet syndrome
Neuropapillitis
Valgus deformities of feet
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
Hemorrhagic diarrhea
WOLFRAM SYNDROME 2
Temporomandibular Joint Dysfunction Syndrome
Romberg's sign positive
Ocular muscular dystrophy
Fibrinogen assay
Muscular Dystrophy, Emery-Dreifuss
Shoulder girdle weakness
Hypereosinophilia
Eosinophilic myositis (disorder)
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
Bethlem myopathy
TIBIAL MUSCULAR DYSTROPHY, TARDIVE
Limb-girdle muscle weakness
Contractures of the joints of the lower limbs
Autosomal recessive, childhood type, muscular dystrophy resembling Duchenne or Becker muscular dystrophy
Benign scapuloperoneal muscular dystrophy with early contractures [Emery-Dreifuss]
Severe [Duchenne] muscular dystrophy
Sarcoglycanopathies
Congenital muscular dystrophy with specific morphological abnormalities of the muscle fiber
Absent muscle fiber calpain-3
Autosomal recessive limb girdle muscular dystrophy type 2A
Angular cheilitis
Peeling of skin
Leukonychia
Knuckle pads
Glaucomatous retinal degeneration
PEELING SKIN SYNDROME
Serum Alanine Aminotransferase Measurement
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
Calcium measurement
Amebiasis
Amebic colitis
Listeriosis
Superinfection
Muckle-Wells Syndrome
Infection by Candida albicans
Acute glaucoma
Familial cold urticaria
Chronic multifocal osteomyelitis
Schnitzler Syndrome
Acute Chest Syndrome
Pseudomonas aeruginosa infection
PHOTOPAROXYSMAL RESPONSE 1
Mevalonic Aciduria
Nephropathic cystinosis
Autoinflammatory Syndrome
Eperythrozoonosis
Olivopontocerebellar Atrophies
Reoviridae Infections
Granular cell tumor
Myxoma of the Endocardium
Infantile neuronal ceroid lipofuscinosis
Alexander Disease
Symmetric Diabetic Proximal Motor Neuropathy
Asymmetric Diabetic Proximal Motor Neuropathy
Diabetic Mononeuropathy
Diabetic Amyotrophy
Diabetic Autonomic Neuropathy
Malignant Bone Neoplasm
Gastric erosions
Diabetic Asymmetric Polyneuropathy
Spinal cord stroke
Avascular Necrosis of Femur Head
Diabetic Neuralgia
West Nile viral infection
TNF receptor-associated periodic fever syndrome (TRAPS)
Infiltrating duct carcinoma
Neuroferritinopathy
Cerebral Cavernous Malformations 3
Myxoma of heart
Enteropathogenic Escherichia coli gastrointestinal tract infection
Malignant neoplasm of thorax
Germinoma
Crohn's disease of the ileum
Terminal Ileitis
Lupus-like syndrome
Recurrent sinopulmonary infections
Decreased T cell activation
Defective B cell activation
T-Cell Large Granular Lymphocyte Leukemia
Neoplasm of uncertain behavior of lymphoid, hematopoietic and related tissue, unspecified
Low grade dysplastic nodule
High grade dysplastic nodule
Butterfly rash
Autoimmune Lymphoproliferative Syndrome, Type IIA
Increase in B cell number
Tires quickly
Easy fatigability
Vacuolar myopathy
MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES
Muscle fiber tubular inclusions
Fatiguable weakness of proximal limb muscles
Induced ventricular tachycardia
Ventricular tachycardia, polymorphic
Syncopal Episode
Calcium Metabolism Disorders
Digestive System Disorders
Lactose Intolerance
Hypermagnesemia
Abnormal renal function
Familial hyperparathyroidism
Lofgrens syndrome
Neonatal hypocalcemia
Familial idiopathic hypercalciuria
Neonatal hyperparathyroidism
idiopathic epilepsy
Idiopathic hypercalciuria
High blood phosphate levels
Elevated C-reactive protein
Elevated circulating parathyroid hormone level
Diarrheal disorder
Hyperparathyroidism-Jaw Tumor Syndrome
Hypocalcemia, Autosomal Dominant, with Bartter Syndrome
HYPERPARATHYROIDISM, NEONATAL SEVERE
Hypocalciuric Hypercalcemia, Acquired
Hypermagnesiuria
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
Abnormal enzyme/coenzyme activity
Elevated C-reactive protein level
Abnormality of the thyroid gland
Actinomycosis
Pneumonia, Bacterial
Claustrophobia
Involutional Depression
Dyskinesia, Drug-Induced
Embryopathies
Keratosis Blennorrhagica
Kernicterus
Pericarditis
Mast-Cell Sarcoma
Hallopeau-Siemens Disease
Eosinophilia-Myalgia Syndrome
Phenylketonuria, Maternal
Keratoma
Variegate Porphyria
Acute cholangitis
Acatalasia
Chronic purulent otitis media
Stage IV Prostate Carcinoma
Hyperpipecolic Acidemia
Adenomatous goiter
Acute ulcer
Brittle diabetes
Catalase measurement
Pulmonary Thromboembolisms
Mitral valve endocarditis
Dyskinesia, Medication-Induced
Cystathionine beta-Synthase Deficiency Disease
Hypocatalasemia
Alcohol Related Neurodevelopmental Disorder
Female genital tract infection
Ureteral Calculi
Bonnevie-Ullrich Syndrome
Arterial leg ulcer
Involutional paraphrenia
Psychosis, Involutional
MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
Peroxisome Biogenesis Disorder, Complementation Group D
Trichothiodystrophy Syndromes
Catalase deficiency
Acatalasemia Japanese type
Acatalasemia Swiss type
Stage IV Prostate Cancer AJCC v7
Partial Fetal Alcohol Syndrome
Diabetes Mellitus, Ketosis-Prone
Reduced catalase activity
Cerebellar cortical atrophy
Bone Cysts
Electrocardiogram
Myoma
Growth hormone excess
Absence of subcutaneous fat
Psoriasiform eczema
Congenital secretory diarrhea, sodium type (disorder)
Secondary Open Angle Glaucoma
Glasser's disease
Hereditary gingival fibromatosis
Scleroderma, Limited
Uterine carcinoma
Abnormal pigmentation
Hypopharyngeal Carcinoma
Dyspareunia
Decreased adipose tissue around neck
Loss of subcutaneous adipose tissue in limbs
Prominent supraorbital ridges
Lipodystrophy with Congenital Cataracts and Neurodegeneration
Generalized hirsutism
Skeletal muscle hypertrophy
Lipodystrophy, Congenital Generalized, Type 3
Congenital Bilateral Cataracts
Lack of facial subcutaneous fat
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME
PULMONARY HYPERTENSION, PRIMARY, 3
Narrow foramen obturatorium
Hypertrophy of supraorbital ridge
Hypertrophy of supraorbital margins
Hyperplasia of supraorbital ridge
Hyperplasia of supraorbital margins
Asymmetric Septal Hypertrophy
Hyperirritability
Paresis of extraocular muscles
Subaortic stenosis
Proximal myopathy
Idiopathic hypertrophic subaortic stenosis
RIPPLING MUSCLE DISEASE 2 (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C
RIPPLING MUSCLE DISEASE 1
Rippling muscle disease
Muscle hyperirritability
Muscle mounding
Exercise-induced muscle cramps
Exercise-induced muscle stiffness
LONG QT SYNDROME 9 (disorder)
Chromosome 3, monosomy 3p25
MYOPATHY, DISTAL, TATEYAMA TYPE
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Percussion-induced rapid rolling muscle contractions
Heterotopic Ossification
Osteoid osteoma
Tooth, Supernumerary
Spina Bifida Occulta
Bone Cysts, Aneurysmal
Cervical rib
Pfeiffer Syndrome
Stomatognathic System Abnormalities
Disorder of skeletal system
Osteoma cutis
Defect of skull ossification
Odontome
Lack of bone formation
Chronic metabolic acidosis
Dedifferentiated chondrosarcoma
Primary chondrosarcoma of bone
Narrow palate
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly
Hypoplastic inferior ilia
CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY
Large foramen magnum
Delayed eruption of primary teeth
Delayed eruption of permanent teeth
Flared metaphysis
Down-sloping shoulders
Parietal bossing
Absent paranasal sinuses
Wide pubic symphysis
Aplastic clavicles
Short philtrum
Short 5th metacarpal
Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
Abnormal facility in opposing the shoulders
Moderately short stature
Long second metacarpal
Acampomelic Campomelic Dysplasia
Split-Hand/Foot Malformation
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY
Aplasia of paranasal sinuses
CLEIDOCRANIAL DYSPLASIA, SEVERE, WITH OSTEOPOROSIS AND SCOLIOSIS
Short middle phalanx of the 2nd finger
Short face
Multiple small vertebral fractures
Osteoporosis of vertebrae
Abnormality of the sacrum
Missing sinuses
Hyperplasia of foramen magnum
Decreased calcification of skull
Increased diameter of foramen magnum
Increased circumference of foramen magnum
Dimple chin
Congenital hypoplasia
Platelet Storage Pool Deficiency
Patau syndrome
Leukemic Infiltration
Childhood B Acute Lymphoblastic Leukemia
de novo myelodysplastic syndromes
secondary myelodysplastic syndromes
Inherited platelet disorder
Friend leukemia
Acute myeloid leukemia with multilineage dysplasia
Therapy-related acute myeloid leukemia and myelodysplastic syndrome
Secondary polycythemia
Acute Myeloid Leukemia Arising from Previous Myelodysplastic Syndrome
Acute myeloid leukemia, inv(16)(p13q22)
Platelet Disorder, Familial, with Associated Myeloid Malignancy
DISORGANIZATION, MOUSE, HOMOLOG OF
THROMBOCYTOPENIA 2 (disorder)
Hyperdiploid B Acute Lymphoblastic Leukemia
Bone Marrow failure syndromes
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Core binding factor acute myeloid leukemia
Childhood Pre-B Acute Lymphoblastic Leukemia
Myelofibrosis due to another disorder
Acute myeloid leukemia, t(8;21) (q22;q22)
Acute myeloblastic leukemia with t(8;21)
Childhood Acute Megakaryoblastic Leukemia
Gastritis, Hypertrophic
Lesion of stomach
Colorectal Tubular Adenoma
Acute myelomonocytic leukemia with abnormal eosinophils
AML M4 Eo with inv(16) or t(16;16)
Sarcoma of mesentery
Other specified disorders of adrenal gland
Hypocortisolism secondary to another disorder
Abnormality of cortisol-binding globulin
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Corticosteroid-Binding Globulin Deficiency
Corticosteroid-Binding Globulin, Elevated
Widespread Chronic Pain
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis
Myelomonocytic leukemia
Preleukemia
Child Development Deviations
Child Development Disorders, Specific
Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site
Jacobsen Distal 11q Deletion Syndrome
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
Experimental Autoimmune Encephalomyelitis
Pemphigoid, Benign Mucous Membrane
Pyloric Stenosis
Epidermolysis Bullosa Acquisita
Conjunctival scar
Collagen-vascular disease
Compression fracture of vertebral column
Collapse of vertebra
Thin rib
Preterm premature rupture of membranes (disorder)
Nonspecific interstitial pneumonia
Shallow orbits
OSTEOGENESIS IMPERFECTA, TYPE X
T-cell lymphoma/leukemia
Clubbing of nail
Primary infection NOS
Meningomyelocele
Personality Disorders
Sinus Thrombosis, Intracranial
Embolism and Thrombosis
Leishmaniasis, New World
Arterial malformation
Biconcave vertebral bodies
Homocysteine measurement
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocysteinemia
Homocystinuria, Pyridoxine-Responsive
Generalized osteoporosis with pathologic fractures
HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE
Cerebellar malformation
Biliary Tract Neoplasm
Unconscious State
Manic mood
Feeding Disorders
Cholera Infantum
High Grade Astrocytic Tumor
Round cell tumor
Pancreatic disorders (not diabetes)
Zollinger-Ellison syndrome
Multiple Chemical Sensitivity
Gastric Gastrointestinal Stromal Tumor
Angiomyoma
Adrenal calcification
Compression injury of nerve
Capillary-venous malformation
Hemangioma, Cavernous, Central Nervous System
Cavernous Hemangioma, Extracerebral
Cavernous Hemangioma, Intracerebral
Cerebral Cavernous Hemangioma
Cutaneous vascular malformation
Cerebral Cavernous Malformations 1
Cavernous Malformations of CNS and Retina
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations
Hepatic vascular malformations
Retinal vascular malformation
CEREBRAL CAVERNOUS MALFORMATIONS 2
Cavernous Angioma, Central Nervous System
Angioma
Familial cerebral cavernous malformation
Focal T2 hypointense brainstem lesion
Focal T2 hyperintense brainstem lesion
Malignant germ cell neoplasm
Wound, non-healed
Esophageal Diseases
Disease due to Parvoviridae
Tonsillar Carcinoma
HER2-positive carcinoma of breast
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3
Abnormal localization of kidney
Pancreatic Intraepithelial Neoplasia-1A
Senile angioma
Viral Carcinogenesis
Serous Endometrial Intraepithelial Carcinoma
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
Capillary Malformation Without Arteriovenous Malformation
BASAL CELL CARCINOMA, SOMATIC
Hepatobiliary disease
Cataract, total congenital with posterior sutural opacities in Heterozygotes
Alveolar pyorrhea
Urban cutaneous leishmaniasis
Histiocytosis haematophagic
Eosinophilic Pneumonia
Hermanski-Pudlak Syndrome
Leprosy, Lepromatous
Condyloma
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Lymphoid depletion
Inflammatory cardiomyopathy
IMMUNODEFICIENCY 19
Lymphomatoid Granulomatosis
T-lymphocyte immunodeficiency
Gastrointestinal Stromal Sarcoma
IMMUNODEFICIENCY 18
IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT
IMMUNODEFICIENCY 18, SCID VARIANT
Decreased number of CD3+ T cells
Decreased number of CD8+ T cells
IMMUNODEFICIENCY 17
Dislocations
Iridocyclitis
ESR raised
Acquired aplastic anemia
Protracted diarrhea
Immunodeficiency due to Defect in CD3-Zeta
Severe Aplastic Anemia
Juvenile pauciarticular chronic arthritis
Susceptibility to herpesvirus
Infective arthritis of shoulder region
Unspecified infective arthritis involving upper arm
Unspecified infective arthritis involving forearm
Unspecified infective arthritis involving hand
Unspecified infective arthritis, pelvic region and thigh
Unspecified infective arthritis involving lower leg
Unspecified infective arthritis, ankle and foot
AIDS-Related Opportunistic Infections
Infection by human herpesvirus 7
Abnormality of T cells
OKT4 EPITOPE DEFICIENCY
Thymic Squamous Cell Carcinoma
Discitis
hemangiopericytoma
Hibernoma
Liposarcoma, Pleomorphic
Round cell liposarcoma
Myxoid chondrosarcoma
Malignant Lipomatous Neoplasm
Intravenous leiomyomatosis
Lipoblastoma
Periventricular Heterotopia, X-Linked
Syndactyly, type 2
Lipomatosis, Multiple
Cryptosporidiosis
Respiratory Tract Infections
Multiple Sclerosis, Chronic Progressive
Chronic Airflow Obstruction
CD8 Deficiency, Familial
Absence of CD8+ T cells
Primary HIV infection
Appendicitis
Burning Mouth Syndrome
Immediate hypersensitivity
Periapical Periodontitis
Prurigo
Upper Respiratory Infections
Gram-Negative Bacterial Infections
Syphilis, secondary
Community-Acquired Infections
Obstruction of bronchus
Traveler's diarrhea
Pouchitis
IgG myeloma
Acute asthma
Corneal infection
Refractory cytopenia with multilineage dysplasia
Nasal allergies
Bacterial diarrhoea
Dry cough
Distal colitis
Campylobacter jejuni infection
Chlamydia pneumoniae Infections
Advanced cirrhosis
Alcoholic liver damage
Refractory cytopenia with multilineage dysplasia (RCMD)
Acute lyme disease
Childhood nephrotic syndrome
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
Anus, Imperforate
Viral meningitis
Dermatopathic lymphadenitis
Seronegative rheumatoid arthritis
Cytokine release syndrome
Refractory Follicular Lymphoma
Trisomy 4
Lattice corneal dystrophy Type I
Immunoglobulin Deficiency, Late-Onset
Antibody Deficiency due to Defect in CD19
Primary immunoglobulin A nephropathy (disorder)
Immunoglobulin G4 related sclerosing disease
Hay fever
Urticaria Pigmentosa
Chronic interstitial nephritis
Urine looks dark
Chromosome 12, trisomy 12q
Non-Hodgkin's lymphoma refractory
Diffuse large B-cell lymphoma recurrent
Multi-centric Castleman's Disease
Kallmann Syndrome 1
Refractory Childhood Acute Lymphoblastic Leukemia
B Acute Lymphoblastic Leukemia, Philadelphia Chromosome Negative
VITAMIN B12 MEASUREMENT
Lupus Erythematosus, Subacute Cutaneous
Active tuberculosis
Hyperimmunoglobulin M syndrome
Tuberculosis, extrapulmonary
Latent Tuberculosis
LYMPHOPROLIFERATIVE SYNDROME 2
IMMUNODEFICIENCY 13
Berylliosis
Common Cold
Fuchs' heterochromic cyclitis
Lichenification
Lown-Ganong-Levine Syndrome
Paracoccidioidomycosis
Rheumatoid Vasculitis
Cutaneous plaque
Inflammatory neuropathy
Pulmonary paracoccidioidomycosis
Poikiloderma
Apraxia, Developmental Verbal
Beryllium Disease
Functional proteinuria
Chronic arthritis
Disorder of lymph node
Disease caused by Shigella dysenteriae
Neuroborreliosis
Recurrent Rhabdomyosarcoma
Stage IV Renal Cell Cancer
Stage IV Renal Cell Cancer AJCC v7
Carcinoma, Ehrlich Tumor
Marek Disease
Bacterial Vaginosis
Mixed Cellularity Hodgkin Lymphoma
Hodgkin lymphoma, lymphocyte depletion
Skin Diseases, Viral
Pityriasis Lichenoides et Varioliformis Acuta
Sprue
Testicular embryonal carcinoma
Polyembryoma
Ovarian Embryonal Carcinoma
Subcutaneous panniculitis-like T-cell lymphoma
Refractory Hodgkin Lymphoma
Leukemic infiltration of skin
Aggressive Systemic Mastocytosis
Lymphocyte Rich Classical Hodgkin Lymphoma
T-cell/histiocyte rich large B-cell lymphoma
Anaplastic diffuse large B-cell lymphoma
Amaurosis congenita of Leber, type 1
Refractory Childhood Hodgkin Lymphoma
Mycobacterium avium-intracellulare Infection
Mycobacterium avium infection
Chronic ulcer
Extrinsic allergic alveolitis
Mucopolysaccharidosis II
Mucopolysaccharidosis VII
Myelolipoma
Neoplasms, Fibrous Tissue
Myofibroblastoma
Adult Acute Promyelocytic Leukemia with PML-RARA
Fibrous papule of nose
Elastofibroma
Fibrous papule of face
Infection by human herpesvirus 6
Spindle cell liposarcoma
Low-grade fibromyxoid sarcoma
Congenital amegakaryocytic thrombocytopenia
Dermal Fibroma
Lipomatous hemangiopericytoma
Soft Tissue Tumor of Uncertain Differentiation
Mixed Cell Type Gastrointestinal Stromal Tumor
Uterine Angiosarcoma
Direct Contact Transmission Infection
THROMBOCYTOPENIA 1 (disorder)
Gaucher Disease, Type 1
Idiopathic Interstitial Pneumonias
Acute-On-Chronic Liver Failure
Nephrogenic Systemic Fibrosis
Hunger
Vitamin E Deficiency
Gray Platelet Syndrome
Giant platelet (morphologic abnormality)
Exercise-induced angina
Breast Liposarcoma
Platelet Glycoprotein IV Deficiency
MALARIA, SUSCEPTIBILITY TO (finding)
CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7
Acute malaria
response to fenofibrate
Arteriosclerotic cardiovascular disease, NOS
Abnormality of the endocrine system
Fatty Liver Disease
Follicular cyst
Leydig Cell Tumor
Leydig cell tumor, benign
Vitamin E Assay
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
Hand, Foot and Mouth Disease
Myoclonus, Action
Action Myoclonus-Renal Failure Syndrome
Morning myoclonic jerks
Enterovirus 71 infection
EEG with polyspike wave complexes
Subungual exostoses
Coloboma of optic disc
Synovial sarcoma, biphasic
Classical Lissencephaly
Chromosome 3, trisomy 3q
Monophasic Synovial Sarcoma
Congenital sensorineural hearing loss
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
Borderline mental retardation (I.Q. 70-85)
SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE
Apocrine metaplasia
Dysplasia of larynx
COENZYME Q10 DEFICIENCY, PRIMARY, 6
Diverticulitis
Poxviridae Infections
Schizotypal Personality Disorder
Erythema Infectiosum
Acute myocarditis
Perceptual disturbance
Osteopenia/osteoporosis
Sclerosis of the skin
Schizoaffective disorder, bipolar type
IgE deficiency
Transfusion-Related Acute Lung Injury
Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 3
Hyper-IgM Immunodeficiency Syndrome, Type 5
Impaired Ig class switch recombination
Ectodermal dysplasia, hypohidrotic, with immune deficiency
Light Fixation Seizure Syndrome
CD40 Ligand Deficiency
Prodromal Symptoms
Impaired memory B-cell generation
Enteritis
Tuberculoid leprosy
Mixed Connective Tissue Disease
Congenital Rubella Syndrome
Toxoplasmosis, Cerebral
Gingivostomatitis
Immunodeficiency congenital
Thrombocytopenic purpura
Abdominal sepsis
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC
Bone marrow infiltration
Hepatic Fibrosis, Congenital
Soft Tissue Infections
Papilloma, Intraductal
Combined Hepatocellular Carcinoma and Cholangiocarcinoma
Hydrosalpinx (disease)
Cervix carcinoma stage III
Cervical carcinoma stage IB
Osteosarcoma recurrent
Bladder cancer recurrent
Gliomatosis cerebri
HODGKIN'S AND NON-HODGKIN'S LYMPHOMA
Pneumonia due to Klebsiella pneumoniae
Pneumonia due to Gram negative bacteria
Monoblastic leukemia
Adenocarcinoma of ampulla of Vater
Omodysplasia type 1
Overgrowth Syndrome
Neonatal meningitis
Compensated hemolytic anemia
Gluten sensitivity
Enthesitis
Partial Trisomy
Candidemia
External exotoses
Hemoglobinuria, Paroxysmal
Ventricular Fibrillation
Narcolepsy-Cataplexy Syndrome
CD59 Deficiency
Acute vascular graft rejection
Primary hypercholesterolemia
Autoimmune urticaria
Sex hormone binding globulin measurement
Persistent Vegetative State
Waardenburg Anophthalmia Syndrome
Myxoinflammatory fibroblastic sarcoma
Lichen disease
Food-protein induced enterocolitis syndrome
Thymoma, type B3
Thymoma, type C
Thymic Carcinoid Tumor
Bacteremia due to Staphylococcus aureus
Haemophilus Infections
Heavy Chain Disease
Infection of bone
Chronic sinus disease
Breast Diffuse Large B-Cell Lymphoma
AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE
IMMUNODEFICIENCY, COMMON VARIABLE, 6
Stenosis of nasolacrimal duct
Epidermolysis bullosa, pretibial
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
Reduced beta/alpha synthesis ratio
Congenital dyserythropoietic anemia, type II
Unilateral Multicystic Dysplastic Kidney
Osteoarthritis, Spine
Hyalinosis, Systemic
Congenital dyserythropoietic anemia, type III
Reis-Bucklers' corneal dystrophy
Thiel-Behnke corneal dystrophy
Drug-induced paranoid state
TRICHOMONAS VAGINALIS (finding)
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
Nonerosive Arthritis
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
Vascular Endothelial Growth Factor Measurement
Small labia majora
Congenital absence of jaw
Congenital absence of mandible
Congenital absence of external ear
Absent auditory canals
Radiohumeral dislocation
Ulnohumeral dislocation
Absent ear
Slender long bone
Hypoplasia of the capital femoral epiphysis
Absent external auditory canals
Clitoral hypoplasia
Hypoplastic labia minora
Irregular femoral epiphysis
Birth length less than 3rd percentile
Atretic auditory canal
Atresia of the external auditory canal
Patellar aplasia
MUNGAN SYNDROME
Dislocation of elbow joint
MEIER-GORLIN SYNDROME 5
Microtia, third degree
Absent mandible
Abnormal shape/structure of ear
Liver cyst
Asthenozoospermia
Pemphigus and fogo selvagem
Adams Oliver syndrome
Microvillus inclusion disease
anxiety acute
Clostridium; difficile (disorder)
Neutropenia, Severe Congenital, X-Linked
TAKENOUCHI-KOSAKI SYNDROME
Neoplasm Seeding
Helicobacter Infections
Chronic cholecystitis
Spongiotic dermatitis
Peg-shaped teeth
Distichiasis
Lower eyelid ectropion
Paget's disease of vulva
Signet-ring cell adenocarcinoma gastric
Cleft palate and bilateral cleft lip
Blepharo-cheilo-dontic syndrome
OROFACIAL CLEFT 1
Pancreatic Intraductal Papillary Mucinous Neoplasm, Gastric-Type
GASTRIC CANCER, FAMILIAL DIFFUSE, AND CLEFT LIP WITH OR WITHOUT CLEFT PALATE
Pointed tooth
Everted lower eyelids
Compulsive Personality Disorder
Ectrodactyly
HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
Sparse eyelashes
Ectodermal dysplasia, ectrodactyly, and macular dystrophy
Sparse and thin eyebrow
No-Reflow Phenomenon
Malignant Mixed Mesodermal (Mullerian) Tumor
Blepharochalasis
Hearing Loss, Mixed Conductive-Sensorineural
Peripheral arthritis
Malignant mesenchymal tumor
Retinoma
Dentin dysplasia, type 1
Branchio-skeleto-genital syndrome
Retinoblastoma, spontaneously regressed
Large earlobe
Periorbital wrinkles
Thoracolumbar kyphoscoliosis
Downturned corners of mouth
Abnormality of dentin
Attached earlobe
Abnormality of the sella turcica
Advanced pneumatization of the mastoid process
Unilateral cleft palate
Abnormality of the vertebral spinous processes
Abnormality of the hypophysial fossa
Abnormality of the shape of the midface
Rootless teeth
Hyperplastic lymph node
drug response
Coronary Restenosis
Tubular breast carcinoma
Adiponectin Measurement
Mental Retardation, Autosomal Dominant 3
Neoplasms, Glandular and Epithelial
stage, gastric cancer
Intestinal metaplasia
Non-small cell lung cancer stage II
Tumor of the Pineal Region
Bronchial carcinoid
Dysplastic Nevus Syndrome
Parosteal Osteosarcoma
Brain Stem Neoplasms
Undifferentiated High Grade Pleomorphic Sarcoma of Bone
Brain Stem Neoplasms, Primary
Mesencephalic Neoplasms
Pontine Tumors
Compensatory Hyperinsulinemia
Intracortical osteosarcoma
Periosteal Osteosarcoma
Depressed - symptom
Enchondroma
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
Oestrogen receptor positive breast cancer
Advanced breast cancer
Abnormality of the lymphatic system
Poorly differentiated sarcoma
Grade III Chondrosarcoma
Fusion-Positive Rhabdomyosarcoma
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA
Lissencephaly with cerebellar hypoplasia
Ectopic Tissue
Single kidney
MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE
Brooke-Spiegler syndrome
Gestational choriocarcinoma
NUT midline carcinoma
Transient Myeloproliferative Disorder of Down Syndrome
Cholesteatoma
Fuchs Endothelial Dystrophy
Granuloma
Hypopharyngeal Neoplasms
Microinvasive tumor
Non-Functioning Pituitary Gland Neoplasm
Disease due to Papilloma virus
Infiltrating Bladder Urothelial Carcinoma
Fasting hyperinsulinemia
Gastric Carcinoma with Lymphoid Stroma
Pituitary growth hormone cell adenoma
Tertiary hyperparathyroidism
Carcinoid tumor of lung
Cystadenofibroma
Synovial sarcoma non-metastatic
Small Intestinal Neuroendocrine Neoplasm
Cancer Cell Growth
Multiple Endocrine Neoplasia, Type IV
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
Multiple endocrine neoplasia type 4
Diastasis recti
Port-Wine Stain
Transient neonatal diabetes mellitus
Complex Endometrial Hyperplasia
Enlarged kidney
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Overgrowth
BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION
Adrenocortical cytomegaly
Overgrowth of external genitalia
Generalized overgrowth
Pancreatic hyperplasia
SPLIT-HAND/FOOT MALFORMATION 4
Adrenal Hypoplasia, Cytomegalic Type
Renal cortical cysts
Fetal overgrowth
WILMS TUMOR 2
Posterior helix pit
Recurrent Atypical Teratoid/Rhabdoid Tumor
Adenosarcoma
Branchioma
Brenner Tumor
Polyp in nasopharynx
Chromosome Deletion
Glycogen Storage Disease Type VI
Vulvar Lichen Sclerosus
Leukomalacia, Periventricular
Extra-Adrenal Paraganglioma
Penile Neoplasms
Supratentorial Neoplasms
Chromosomal translocation
Hypopharyngeal Cancer
Malignant neoplasm of anus
Glandular Neoplasms
Cystadenocarcinoma, Mucinous
Mucoepidermoid Tumor
Childhood Rhabdomyosarcoma
Carcinoma of unknown primary
Squamous cell carcinoma of vagina
Persistent Hyperplastic Primary Vitreous
Chronic cervicitis
Neuroblastoma recurrent
Small cell carcinoma of the cervix
Bladder Squamous Cell Carcinoma
Anaplastic Ependymoma
Morphologically abnormal structure (morphologic abnormality)
Papillary squamous cell carcinoma
Squamous cell carcinoma, metastatic
tubular adenomas and adenocarcinomas
Proliferating Brenner Tumor
Neoplasm of cornea
Ulcerative jejunitis
Angiosarcoma of liver
Eccrine epithelioma
Penile intraepithelial neoplasia
Cervix adenomatous polyp
Vaginal intraepithelial neoplasia grade 1
Vulval intraepithelial neoplasia grade 3
Pleomorphic adenoma of parotid gland
Human T-cell lymphotrophic virus, type I [HTLV-I]
Atypical meningioma
Chromosome 9, trisomy
Chemical Carcinogenesis
Biliary stricture
Basal Cell Cancer
Peripheral Nerve Sheath Neoplasm
Chromosome 10, monosomy 10q
Pineal germinoma
Ewing's tumour localised
Gastric hyperplastic polyp
Malignant tenosynovial giant cell tumor
Melanocytic neoplasm
Adult B Lymphoblastic Lymphoma
Astrocytoma of brain stem
Childhood B Lymphoblastic Lymphoma
Gastric Cardia Carcinoma
Large Cell Lung Neuroendocrine Carcinoma
Adenocarcinoma of the nasal cavity
Vulvar Intraepithelial Neoplasia, Differentiated Type
Pleural Mesothelioma
Chronic esophagitis
Glioblastoma, IDH-Mutant
Colorectal Mucinous Adenocarcinoma
Melanoma astrocytoma syndrome
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, 1
MELANOMA-PANCREATIC CANCER SYNDROME
OROLARYNGEAL CANCER, MULTIPLE
Ulnar-mammary syndrome
Retinomas (translucent, grayish retinal mass protruding into the vitreous)
Biliary papillomatosis
Inverted Squamous Cell Papilloma
Wolf-Hirschhorn Syndrome
Autosomal aneuploidy
Pancreatic squamous cell carcinoma
Bone Fibrosarcoma
Human Papillomavirus Positive Oropharyngeal Squamous Cell Carcinoma
Partial Monosomy
Pancreatic Intraepithelial Neoplasia-3
Condylomatous carcinoma
Biliary System Disorder
Proliferative verrucous oral leukoplakia
Central Nervous System Embryonal Tumor, Not Otherwise Specified
Overweight or obesity
Epstein-Barr virus associated gastric carcinoma
Oral infection
Hemorrhagic Fevers, Viral
Erythema Multiforme
Metastatic Carcinoma to the Uterine Cervix
Hepatoblastoma Caused By Somatic Mutation
Vaginal yeast
Flaccid paralysis
Onycholysis
Hypotrichosis Simplex of Scalp
Peeling skin syndrome, acral type
Hypotrichosis of the scalp
Bile Reflux
Gastrointestinal carcinoma
Cystitis glandularis
Midgut Carcinoid Tumor
Gastrointestinal inflammation
Intestinal Neuroendocrine Carcinoma
Splenic Neoplasms
Stage 0 Carcinoma of Colon
Lymphangitis carcinomatosa
Non-small cell lung cancer recurrent
colon cancer liver metastasis
Follicular carcinoma, widely invasive
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
Apparent mineralocorticoid excess
Arbovirus Infections
Adult Fibrosarcoma
Histiocytic leukemia
Paraneoplastic Syndromes
Paraneoplastic Opsoclonus-Myoclonus Ataxia
Specific granule deficiency
Absent neutrophil specific granules
Hyposegmentation of neutrophil nuclei
SPECIFIC GRANULE DEFICIENCY 2
Atrophy of pancreas
Simple Pulmonary Eosinophilia
Disseminated eosinophilic collagen disease
Acute respiratory disease
Invasive Pulmonary Aspergillosis
Hypereosinophilic syndrome
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION
Benign symmetrical lipomatosis
Abnormality of exocrine pancreas physiology
Uterine dysfunction
Complete Trisomy 21 Syndrome
Partial agenesis of corpus callosum
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Small hand
Partial or complete agenesis of corpus callosum
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
Duodenal atresia
Bilateral renal hypoplasia
Jejunal Atresia with Microcephaly and Ocular Anomalies
Dysosmia
Cacosmia
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 10
Hepatic granulomatosis
Status Dysraphicus
Rachischisis
Gross motor development delay
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
Nemaline Myopathy 7
pustule
Onychogryposis
Early onset periodontitis
Pimples
Periodontosis
Oncogenic osteomalacia
Deficiency of cathepsin C
Aggressive periodontitis, generalized
Recurrent bacterial skin infections
HAIM-MUNK SYNDROME
Congenital palmoplantar keratosis
Choroid plexus calcification
Haim-Monk Syndrome
Dihydropyrimidinuria
Chronic furunculosis
Tapering pointed ends of distal finger phalanges
Eye Infections
Intestinal Obstruction
Parainfluenza
Pseudomonas Infections
Rectal Prolapse
Salpingitis
Typhoid Fever
Lower respiratory tract infection
Congenital absence of lung
Pancreas divisum
Secretory diarrhea
Congenital chloride diarrhea
Lactose Intolerance, Adult Type
Congenital unilateral absence
Mucus cast
Idiopathic bronchiectasis
Young Syndrome
Infectious disorder of bronchus
Idiopathic chronic pancreatitis
Influenza-like symptoms
Ataxic cerebral palsy
Distal intestinal obstruction syndrome
pancreatitis idiopathic
Distal ileal obstruction syndrome
Hypotonic dehydration
Ileus
Chronic emphysema
Respiratory morbidity
Fibrocystic Disease of Pancreas
Congenital absence of kidneys syndrome
Elevated sweat chloride
LACTASE PERSISTENCE
Duodenal stenosis/atresia
Recurrent bronchopulmonary infections
Autoimmune pancreatitis
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
Generalized Myotonia of Thomsen
Recurrent lower respiratory tract infection
Meconium ileus on ultrasonography
SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS
Intestinal obstruction co-occurrent and due to decreased peristalsis
Autosomal Dominant Hereditary Pancreatitis
Pregnancy, Tubal
Uterine Diseases
Monoplegia
Hemiplegia, Flaccid
Hemiplegia, Spastic
Hemiplegia, Infantile
Hemiplegia, Transient
Hemiplegia, Post-Ictal
Familial Retinoblastoma
hormone related neoplasm/cancer
Thyroid cancer, follicular
Fetal Resorption
Canarypox (disorder)
Crohn's disease of large bowel
Aspiration Pneumonia
Poliomyelitis
Familial infantile myasthenia
Ophthalmoparesis
Congenital Myasthenic Syndromes, Presynaptic
Vaccine associated paralytic poliomyelitis
Progressive ptosis
Decreased activity of the pyruvate dehydrogenase (PDH) complex
Generalized hypotonia due to defect at the neuromuscular junction
Decreased miniature endplate potentials
Type 2 muscle fiber atrophy
Apneic episodes precipitated by illness, fatigue, stress
EMG: decrement at repetitive stimulation
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
Abnormality of the immune system
Sudden episodic apnea
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
X-linked retinitis pigmentosa
RETINITIS PIGMENTOSA 3
PILAROWSKI-BJORNSSON SYNDROME
Falls
Lennox-Gastaut syndrome
Myoclonic Astatic Epilepsy
Reflex Epilepsy, Photosensitive
Myoclonic Encephalopathy
Atypical absence seizure
Atypical Inclusion-Body Disease
Familial Progressive Myoclonic Epilepsy
Biotin-Responsive Encephalopathy
May-White Syndrome
Generalized tonic seizures
Hypotonic seizures
Abnormality of brainstem morphology
Familial CHARGE Syndrome
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EEG with 3-4-Hz spike waves
Abnormal brain FDG positron emission tomography
EEG with abnormally slow frequencies
EEG with focal sharp slow waves
EEG with spike-wave complexes (>3.5 Hz)
Sudden loss of muscle tone
Congenital torticollis
Fibromatosis colli
Arnold Chiari Malformation
Anteriorly placed anus
Abnormality of the clavicle
SIFRIM-HITZ-WEISS SYNDROME
Paranoid ideation
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
Polyploidy
Colitis, Collagenous
Pheochromocytoma, malignant
Colitis, Lymphocytic
Pheochromocytoma, Extra-Adrenal
Adenocarcinoma of cecum
Severe diarrhea
COPPER TOXICOSIS, IDIOPATHIC
Bilateral pheochromocytoma and islet cell adenoma of the pancreas
Bisphosphonate-associated osteonecrosis
Fungal keratitis
Osteomyelitis due to Staphylococcus aureus
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7
Clinically isolated syndrome
Persistent asthma
Late onset atopic dermatitis
Filariasis
Hookworm Infections
Mycetoma
Mucolipidoses
Type I Mucolipidosis
Neuraminidase 1 deficiency
Niemann-Pick Disease, Type B
Gaucher Disease, Type 2 (disorder)
Candida sepsis
Mycetoma due to Madurella mycetomatis
CHITOTRIOSIDASE DEFICIENCY
Infection in children
Restless Legs Syndrome
Cytochrome-c Oxidase Deficiency
Multi-core congenital myopathy
Proximal Myopathy with Focal Depletion of Mitochondria
Muscular Dystrophy, Congenital, Megaconial Type
Myotubular (centronuclear) myopathy
Choroidal and/or chorioretinal disorder
Choroidal sclerosis
Chorioretinal degeneration
Choroidal dystrophy
Oculomotor Nerve Paralysis
Paralytic strabismus
Manifest vertical squint
Duane Retraction Syndrome, Type 2
Duane Retraction Syndrome, Type 3
Type 1 Duane Retraction Syndrome
Low Grade Sarcoma
Okihiro Syndrome
Globe retraction and deviation on adduction
Acute flaccid paralysis
Abnormal vertebral segmentation and fusion
Limited eye motility from Duane anomaly
Nonproliferative diabetic retinopathy
Hepatosplenic T-cell lymphoma
Acantholysis
Neurogenic Urinary Bladder
Neurogenic Urinary Bladder, Atonic
Neurogenic Urinary Bladder, Uninhibited
Urinary Bladder Neurogenesis
Neurogenic Urinary Bladder, Spastic
Chediak-Higashi Syndrome
Onychomycosis
Piebaldism
Cranial nerve palsies
Pigmentary iris degeneration
White hair
aspirin sensitivity
Macular hypoplasia
Generalized hypopigmentation
Giant melanosomes in melanocytes
CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE
CHEDIAK-HIGASHI SYNDROME, ADULT TYPE
Abnormality of multiple cell lineages in the bone marrow
Recurrent systemic pyogenic infections
Attenuated Chédiak-Higashi syndrome
Urinary Bladder Diseases
Urethral obstruction sequence
Aplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the lungs
Catatonia
Catatonia, Organic
Catatonia, Malignant
Schizophreniform Catatonia
Akinesia
Aplasia of muscle
Hydrops Fetalis, Non-Immune
Congenital Myasthenic Syndromes, Postsynaptic
Myasthenic Syndromes, Congenital, Slow Channel
Pena-Shokeir syndrome type I
Vertebral body fusion
Myasthenic Syndrome, Congenital, Fast-Channel
Fused vertebrae
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
Prolonged miniature endplate currents
Multiple pterygia
Myasthenic syndrome, congenital, postsynaptic slow-channel
Early severe fetal akinesia sequence
Abnormal cervical curvature
Hypoplastic heart
Spinal fusion
Intermittent episodes of respiratory insufficiency due to muscle weakness
Decreased size of nerve terminals
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
Epilepsy, Frontal Lobe
Epilepsy, Nocturnal Frontal Lobe, Type 4
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Serum albumin measurement
Frontal Epilepsy, Benign, Childhood
Epilepsy, Supplementary Motor
Epilepsy, Cingulate
Epilepsy, Opercular
Nocturnal epilepsy
Long Sleeper Syndrome
Short Sleeper Syndrome
Sleep-Related Neurogenic Tachypnea
Subwakefullness Syndrome
Epilepsy, Anterior Fronto-Polar
Epilepsy, Orbito-Frontal
Epilepsy, Nocturnal Frontal Lobe, Type 1
EPILEPSY, BENIGN NEONATAL, 2
Benign Familial Convulsion
Sleep Wake Disorders
Gaming disorder
LUNG CANCER SUSCEPTIBILITY 2 (disorder)
SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 (disorder)
Auditory Perceptual Disorders
SCHIZOPHRENIA 10
Auditory Inattention
Spina Bifida, Open
Chromosome 15q13.3 Microdeletion Syndrome
Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL
Hypothermia, Accidental
Psychological addiction
Epilepsy, Nocturnal Frontal Lobe, Type 3
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIA, FAMILIAL INFANTILE, 1
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL
Diaphragmatic Eventration
Exostosis of external ear canal
Vertical Talus
Multiple pterygium syndrome
Congenital anomaly of neck
Long clavicle
Defect of vertebral segmentation
Hypoplasia of nipple
Deformity of neck
Axillary pterygia
Rib fusion
Absence of labia majora
Neck pterygia
Anterior clefting of vertebral bodies
Dysplastic patella
Pterygium, Antecubital
Popliteal pterygium
Intercrural pterygium
Fused cervical vertebrae
Symphalangism affecting the phalanges of the hand
Camptodactyly of toe
Bilateral camptodactyly
Aplasia/Hypoplasia of the skin
Malformation of the neck
Hypoplasia of lower limb
Hypoplasia involving bones of the upper limbs
Absent external genitalia
Aplasia of the sweat glands
COCOON SYNDROME
Acute schizophrenia
Alcohol-Induced Disorders, Nervous System
Balo's Concentric Sclerosis
Filarial Elephantiases
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding)
MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST
Creatine kinase measurement
Hydroa Vacciniforme
Irregular periods
Hypoplasia of teeth
Decreased lacrimation
Abnormal auditory evoked potential
Cockayne Syndrome, Type III
Loss of facial adipose tissue
Square pelvis bone
Patchy demyelination of subcortical white matter
Severe postnatal growth retardation
Slender nose
Ivory epiphyses of the phalanges of the hand
Thymic hormone decreased
Increased cellular sensitivity to UV light
Progeroid facial appearance
CRANIOSYNOSTOSIS, TYPE 2
Hypoplastic pelvis
UV-SENSITIVE SYNDROME 2
Peripheral dysmyelination
Benign neoplasm of prostate
Decreased serum ceruloplasmin
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
Abnormality of the intestine
Parathormone-independent increased renal tubular calcium reabsorption
Myotonia Congenita
Deaf-Blind Disorders
Pain in limb
Myotonia Levior
Writer's cramp neurosis
Myotonic Disorders
Becker Generalized Myotonia
Non dystrophic myotonia
Muscle hypertrophy of the lower extremities
Obscure African cardiomyopathy
Nondystrophic myotonia
Potassium aggravated myotonia
EMG: spontaneous, repetitive electrical activity
EMG: myotonic runs
Epilepsy with grand mal seizures on awakening (disorder)
Hyperaldosteronism, Familial, Type II
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2
LEUKOENCEPHALOPATHY WITH ATAXIA
Adult Neuronal Ceroid Lipofuscinosis
Chronic pelvic pain of female
MENTAL RETARDATION, X-LINKED 15
MENTAL RETARDATION, X-LINKED 49
Renal Tubular Transport, Inborn Errors
Microscopic hematuria
X-linked recessive nephrolithiasis with renal failure
Sparse bone trabeculae
Bulging epiphyses
Increased serum 1,25-dihydroxyvitamin D3
Tibial bowing
Enlargement of the wrists
Enlargement of the ankles
Low-molecular-weight proteinuria
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis
Dent Disease 2
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting
Dent disease 1
Tubular atrophy
Femoral bowing
Delayed epiphyseal ossification
NEPHROLITHIASIS, X-LINKED RECESSIVE
Fibular bowing
Delayed maturation of end part of long bone
Renal glomerular fibrosis
Convulsive disorder
Chronic rhinitis
Facial paralysis
Fractures of the long bones
Opsoclonus
Osteopetrosis - intermediate type
Osteomyelitis of mandible
Generalized osteosclerosis
Osteopetrosis, mild autosomal recessive form
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis Autosomal Dominant Type 2
Congenital Osteopetrosis
Abnormality of hair texture
Abnormality of the vertebral endplates
Abnormality of hair consistency
Abnormality of hair curl pattern
Abnormality of hair volume
Autosomal Recessive Osteopetrosis
Autosomal Dominant Osteopetrosis
Increased bone density in skeletal bones
Hypochloremia (disorder)
Serum chloride level decreased (finding)
Hypokalemic hypochloremic metabolic alkalosis
Increased urinary potassium
Hyperchloriduria
Fetal polyuria
BARTTER SYNDROME, TYPE 4B
BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
Increased circulating renin level
Hypokalemic metabolic alkalosis
Bartter syndrome, type 3
Bartter Syndrome, Type 3, with Hypocalciuria
Hyperactive renin-angiotensin system
Renal potassium wasting
Impaired reabsorption of chloride
Increased plasma renin activity
Abnormality of the sclera
Atrophy of prostate
Fleck corneal dystrophy
PERIODONTITIS, LOCALIZED AGGRESSIVE
Dementia, familial Danish
Contractures of the large joints
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32
Horizontal Nystagmus
Scanning speech
Explosive speech
Decreased vibratory sense
Ceroid Lipofuscinosis, Neuronal, Parry Type
Dysmetric saccades
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
Progressive gait ataxia
HOYERAAL-HREIDARSSON SYNDROME
Undetectable electroretinogram
Increased extraneuronal autofluorescent lipopigment
CEROID LIPOFUSCINOSIS, NEURONAL, 2
Neuronal lipopigments
Abnormal nervous system electrophysiology
Increased neuronal autofluorescent lipopigment
Alkalemia
Concentric hypertrophic cardiomyopathy
Cerebellar signs
Progressive inability to walk
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
Abnormality of the cerebellum
CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 5
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
Northern epilepsy syndrome
CEROID LIPOFUSCINOSIS, NEURONAL, 6
Motor deterioration
Retinal Dysplasia
STOMATOCYTOSIS I
MiT family translocation renal cell carcinoma
aortic stenosis symptomatic
Adult atopic dermatitis
Exercise-induced hyperinsulinism
Nut Hypersensitivity
Invasive Candidiasis
Respiratory Hypersensitivity
Eczema, Infantile
Asthmatic pulmonary eosinophilia
Idiopathic retroperitoneal fibrosis
Chancroids
Pleurisy
Opsoclonus-Myoclonus Syndrome
Refractory Neoplasm
Brucellosis
Tick-Borne Encephalitis
Hemorrhagic Fever, Crimean
Chronic periaortitis
Periapical Granuloma
Smallpox
Ocular Toxoplasmosis
Infectious and parasitic diseases, unspecified
West Nile Fever
Yellow Fever
Plague, Septicemic
Infections specific to perinatal period
pediatric AIDS
Bubonic Plague
Perianal Crohn's disease
Chronic Chagas' disease
Multifocal motor neuropathy
Infective vaginitis
Seropositive rheumatoid arthritis
infertility tubal factor
lung disease granulomatous
Encephalitis, West Nile Fever
West Nile Fever Meningitis
West Nile Fever Meningoencephalitis
West Nile Fever Myelitis
Inflammatory abdominal aortic aneurysm
Pediatric human immunodeficiency virus infection
Upper urinary tract infection
WEST NILE VIRUS, SUSCEPTIBILITY TO (finding)
DIABETES MELLITUS, INSULIN-DEPENDENT, 22 (disorder)
Enthesitis-Related Arthritis
AIDS (Disease)
ROSE Cluster 5
Encephalitis caused by tick-borne encephalitis virus
Cystadenoma of pancreas
Metastases to adrenals
Ileitis
Congenital thrombocytopenia
knee symptoms
Progression of non-small cell lung cancer
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Molluscum Contagiosum
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1
anaphylaxis
Fanconi Syndrome
Rotor Syndrome
Obstruction of biliary tree
Urine color abnormal
Bone marrow toxicity
De Toni-Debre-Fanconi Syndrome
Abnormality of the gastric mucosa
Cornea plana
Liver Abscess
Peripheral visual field loss
Tunnel visual field constriction
RETINITIS PIGMENTOSA 45
Progressive retinal atrophy
RETINITIS PIGMENTOSA 49
Congenital anosmia
Hemeralopia
Achromatopsia
Color blindness
Pendular Nystagmus
Achromatopsia 1
Cone dysfunction syndrome
Dyschromatopsia
Achromatopsia 2
Progressive cone degeneration
Nystagmus, continuous pendular
Motion Sickness
Ectopic Pregnancy
Schizophrenia, Disorganized
Acute interstitial nephritis
Clasp-Knife Spasticity
Huntington Disease, Late Onset
Binge eating disorder
Polysubstance abuse
Akinetic-Rigid Variant of Huntington Disease
Juvenile Huntington Disease
Addicted to cocaine
Induced hypothermia (finding)
Secondary Parkinson Disease
Cancer Pain
Parkinson Disease, Secondary Vascular
Atherosclerotic Parkinsonism
LEPTIN DEFICIENCY OR DYSFUNCTION
Crisponi syndrome
Overlapping fingers
Oval face
Myopathy, Congenital, Compton-North
Progressive cone-rod dystrophy
Breech Presentation
Dental Calculus
Hernia, Femoral
Hyperesthesia
Cortical Congenital Hyperostosis
Lobstein Disease
Tennis Elbow
Bilateral congenital dislocation of hip
Elastosis perforans serpiginosa
Bat ear
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 2
Ehlers-Danlos Syndrome, Type IV
Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta type IV (disorder)
Lipodermatosclerosis
Protrusio acetabuli
Hereditary Connective Tissue Disorder
Wide cranial sutures
Genu recurvatum
Bowel diverticula
Bowel diverticulosis
Conventional Dermatofibrosarcoma Protuberans
Osteogenesis imperfecta, Levin type
Biconcave flattened vertebrae
Femoral bowing present at birth, straightening with time
Periosteal thickening of long tubular bones
Molluscoid pseudotumors
Irregularly spaced teeth
Neonatal short-limb short stature
Bowing of limbs due to multiple fractures
Cigarette-paper scars
Premature birth following premature rupture of fetal membranes
Narrow maxilla
OI-EDS Combined Syndrome
Multiple prenatal fractures
Brittle Bone Disorder
Severe generalized osteoporosis
Cranial asymmetry
Wide anterior fontanel
Craniofacial disproportion
Osteogenesis Imperfecta, Type V
Crumpled long bones
Mild short stature
Metastatic Dermatofibrosarcoma Protuberans
Skeletal malocclusion
OSTEOGENESIS IMPERFECTA, TYPE III/IV
OSTEOGENESIS IMPERFECTA, TYPE IIC
OSTEOGENESIS IMPERFECTA, TYPE I, MILD
BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS
Relative short stature
Absent ossification of calvaria
Broad long bones
Abnormality of the thorax
Hyperextensibility of the knee
Hyperextensibility at elbow
Cortical irregularity
Ehlers-Danlos syndrome classic type
Subcutaneous spheroids
Ehlers-Danlos syndrome vascular-like type
Brain and/or spinal cord issue
Glycogen Storage Disease Type IV
Scheuermann's Disease
Arachnoid Cysts
Generalized morphea
Osteogenesis imperfecta with blue sclerae AND normal teeth
Recurrent hernia
Hypochondrogenesis
Subcutaneous hemorrhage
EDS VIIB
Ehlers-Danlos syndrome, cardiac valvular form
Calcaneovalgus deformity
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
Old thrombus
Achondrogenesis
Femur Head Necrosis
Heberden's node
Jaw Abnormalities
Neck stiffness
Vitreous degeneration
Congenital vitreous anomaly
Achondrogenesis type 2
Short extremities
Hearing problem
Narrowing of intervertebral disc space
Spade-like hand
Stickler syndrome (disorder)
Trichorhinophalangeal syndrome
Kniest dysplasia
Osteogenesis imperfecta, type 1A
Vitreoretinal degeneration
Congenital hypoplasia of femur
Synovial Hypertrophy
Schmorl's nodes
Arthritis by pattern of joint involvement
Namaqualand hip dysplasia
Spondylometaphyseal dysplasia, 'corner fracture' type
Asteroid hyalosis
Aseptic Necrosis of Femur Head
Spondyloperipheral dysplasia short ulna
Disproportionate short stature
Tracheomalacia
Hip Dysplasia
Claudication (finding)
Lumbar kyphoscoliosis
Coronal cleft vertebrae
Flattened, squared-off epiphyses of tubular bones
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Decreased cranial base ossification
Disc-like vertebral bodies
Severe limb shortening
Stickler Syndrome, Type I, Nonsyndromic Ocular
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
Short distal phalanx of the 5th finger
Czech dysplasia, metatarsal type
Narrow iliac wings
Hyaloideoretinal degeneration of Wagner
Abnormality of the carpal bones
Pugilistic facies
Short stature, severe disproportionate
C1-C2 subluxation
Pierre Robin syndrome with fetal chondrodysplasia
Limited elbow movement
Severe platyspondyly
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
Limited hip movement
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Megaepiphyseal dwarfism
Shortening of all middle phalanges of the fingers
Anisospondyly
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL
Flattened epiphysis
Osteoarthritis with Mild Chondrodysplasia
Enlarged joints
Prominent interphalangeal joints
Large tarsal bones
Hypoplastic ischia
Absent vertebral body mineralization
BRACHYDACTYLY, TYPE E1
Narrow femoral neck
Hypoplastic pubic bone
Spondylometaphyseal dysplasia, Algerian type
Osteophyte
Club-shaped proximal femur
Dumbbell-shaped long bone
Neonatal short-trunk short stature
Prominent joints
Horizontal ribs
Acetabular spurs
Abnormal type II collagen
Abnormal hyaline collagen
Metaphyseal dappling
Abnormality of vertebral epiphysis morphology
Limitation of knee mobility
Short distal phalanx of the 4th finger
Mild neurosensory hearing impairment
Lethal skeletal dysplasia
Short distal phalanx of the 3rd finger
Abnormal cartilage collagen
Splayed epiphyses
Cartilage destruction
Submucous cleft soft palate
Delayed calcaneal ossification
Shortening of all proximal phalanges of the fingers
Metaphyseal enchondromatosis
Absent styloid process of ulna
Aplasia/Hypoplasia of the capital femoral epiphysis
Abnormality of the vitreous humor
Abnormality of ulnar metaphysis
Abnormal enchondral ossification
Abnormality of fibula morphology
Short tubular bones of the hand
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
Delayed heel bone maturation
Dysspondyloenchondromatosis
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2
Otospondylomegaepiphyseal dysplasia
Melorheostosis
Spontaneous pneumothorax
Prolapse of female genital organs
Acrogeria
Ehlers-Danlos syndrome, type 3 (disorder)
Connective tissue nevus, NOS
Arterial aneurysm
Acrogeria, gottron type
Loss of scalp hair
Vascular rupture
Endogenous Hyperinsulinism
Exogenous Hyperinsulinism
Internal hemorrhage
Diverticulosis
Dermal translucency
Absence of scalp hair
Aplasia/Hypoplasia of the earlobes
Premature delivery because of cervical insufficiency or membrane fragility
Hypermobility of distal interphalangeal joints
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1
Arteriovenous fistulas of celiac and mesenteric vessels
ANEURYSM, INTRACRANIAL BERRY, 1 (disorder)
Saccular Aneurysm
Gastrointestinal infarctions
Visual field defects
Abnormality of the urinary system
Peripheral arteriovenous fistula
Abnormality of circle of Willis
Abnormality of oral frenula
Plaque build-up in arteries
Excessive sputum secretion
Infectious Canine Hepatitis
Scotoma
MELAS Syndrome
Malignant Atrophic Papulosis
Walker-Warburg congenital muscular dystrophy
Schizencephaly
Irido-corneal dysgenesis
Quadriparesis
Retinal blind spot
Supraventricular arrhythmia
Absence of septum pellucidum
Multiple renal cysts
Muscle eye brain disease
Paralytic stroke
Familial hematuria
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
Retinal arteriolar tortuosity
Retinal vascular tortuosity
STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO
RETINAL ARTERIES, TORTUOSITY OF
PORENCEPHALY, FAMILIAL
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
Familial vascular leukoencephalopathy
Familial schizencephaly
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
Post-traumatic Porencephaly
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
Abnormal levels of creatine kinase in blood
Abnormal aldolase level
Chorioretinal dysplasia
Posterior leukoencephalopathy
Aplasia/Hypoplasia involving the skeletal musculature
Tumour budding
Abnormal lactate dehydrogenase activity
Metatarsal Valgus
Developmental Porencephaly
Hereditary nephritis
PORENCEPHALY 2
Rapidly progressive glomerulonephritis
Benign hematuria
Lenticonus
Hematuria, Benign Familial
Polymorphous corneal dystrophy
Anterior lenticonus
Thin basement membrane disease
Thickening of glomerular basement membrane
Chandler syndrome
Alport Syndrome, Autosomal Dominant
Alport Syndrome, Autosomal Recessive
Pierson syndrome
CORNEAL ENDOTHELIAL DYSTROPHY 2
Alport syndrome, dominant type
Alport syndrome, recessive type
Hemorrhagic hereditary nephritis
Diffuse glomerular basement membrane lamellation
Retinal lattice degeneration
Leiomyomatosis, esophageal and vulval, with nephropathy
Chronic idiopathic pulmonary fibrosis
High-frequency sensorineural hearing impairment
Mild proteinuria
Diffuse leiomyomatosis
Leiomyoma of esophagus
Cochlear malformation
DEAFNESS, X-LINKED 6
Congenital kyphoscoliosis
Acquired Kyphoscoliosis
Floppy
Bilateral talipes equinovarus
Edema of dorsum of foot
Vertebral Artery Dissection
Phrynoderma
Diaphragmatic paresis
Recurrent chest infections
Ankle contracture
Nocturnal hypoventilation
Hyperextensibility at wrists
Increased laxity of ankles
Increased laxity of fingers
Long toe
Adducted thumb
Diminished diaphragmatic motion
Increased endomysial connective tissue
Ecthyma, Contagious
Thoracolumbar scoliosis
Myosclerosis
Myosclerosis, Autosomal Recessive
Hyperextensible hand joints
Restricted neck movement due to contractures
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Laryngeal dystonia
Oromandibular dystonia
Congenital hereditary muscular dystrophy
DYSTONIA 27
Bulla
Cheilitis
Cicatrization
Esophageal Stenosis
Microglossia
Cockayne-Touraine Disease
Ankyloglossia
Larsen syndrome
Boerhaave syndrome
Atrophy of tongue
Congenital scar
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Milium Cyst
Wasting of tongue
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Localized recessive dystrophic epidermolysis bullosa
Generalized dystrophic epidermolysis bullosa
Nail absent (finding)
Oral mucosal blisters
Epidermolysis Bullosa Pruriginosa
Epidermolysis Bullosa Simplex Superficialis
TOENAIL DYSTROPHY, ISOLATED
Transient bullous dermolysis of the newborn
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE
Abnormality of the vagina
Mitten deformity
Congenital localized absence of skin
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
Epidermolysis Bullosa Dystrophica With Subcorneal Cleavage
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
Larsen syndrome, dominant type
Scarring alopecia of scalp
Skin Vesicle
Abnormality of nail of toe
EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE
Palmoplantar blistering
Late-onset muscular dystrophy
Abnormality of the anus
Red and sore lips
Dystrophic epidermolysis bullosa nails only
Loss of eyelashes
Centripetalis recessive dystrophic epidermolysis bullosa
Acral dystrophic epidermolysis bullosa
Descemet's membrane fold
Corneal degeneration
Corneal guttata
Corneal stromal edema
Congenital hereditary endothelial dystrophy
Corneal dystrophy, Fuchs' endothelial, 1
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
Hip pain
Serous retinal detachment
Homozygous alpha thalassemia
Degenerative vitreoretinopathy
Irregular epiphyses
Small epiphyses
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
STICKLER SYNDROME, TYPE IV
Flat distal femoral epiphysis
Irregular distal femoral epiphysis
Degeneration of lumbar intervertebral disc
Chronic sciatica
Epiphyseal dysplasia, multiple, 2
LUMBAR DISC DEGENERATION, SUSCEPTIBILITY TO (finding)
LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO
STICKLER SYNDROME, TYPE V
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY
Abnormality of the hip joint
Metaphyseal chondrodysplasia Schmid type
Irregular acetabular roof
Metaphyseal cupping of proximal phalanges
Diaphyseal thickening
Metaphyseal cupping of metacarpals
Enlargement of the proximal femoral epiphysis
Broad middle phalanx of finger
Distal tibial bowing
Abnormality of bone mineral density
Proximal femoral metaphyseal abnormality
Intervertebral Disk Displacement
Marshall syndrome
Fibrochondrogenesis
Congenital keratoglobus
Thin clavicle
Upper airway obstruction
Corneal diameter increased
Macrodontia of permanent maxillary central incisor
Wide tufts of distal phalanges
Broad ischia
Hypoplastic toenails
Thick upper lip vermilion
Widely patent coronal suture
Widely patent sagittal suture
Posterior vertebral hypoplasia
Hypoplastic fingernail
STICKLER SYNDROME, TYPE II (disorder)
Long fingers
Bell-shaped thorax
Ulnar bowing
FIBROCHONDROGENESIS 1
MARSHALL/STICKLER SYNDROME
Abnormal diaphysis morphology
Meningeal calcification
Small proximal tibial epiphyses
Small distal femoral epiphysis
Irregular proximal tibial epiphyses
Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome
Increased size of permanent maxillary central incisor
Hypertrophy of permanent maxillary central incisor
Hyperplasia of permanent maxillary central incisor
USHER SYNDROME, TYPE IIA
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
Stickler syndrome, type 3
Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 13
FIBROCHONDROGENESIS 2
Grip strength decreased
BETHLEM MYOPATHY 2
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2
MYASTHENIC SYNDROME, CONGENITAL, 19
BASAL LAMINAR DRUSEN (disorder)
Pemphigoid Gestationis
Epidermolysis Bullosa Progressiva
Epidermolysis Bullosa Simplex
Recurrent erosion of cornea
Adult junctional epidermolysis bullosa (disorder)
Congenital leukocyte adherence deficiency
Lichen planus pemphigoides
Linear IgA Bullous Dermatosis
Junctional epidermolysis bullosa mitis
Paraneoplastic pemphigus
Hyperhidrosis Palmaris Et Plantaris
Fingerprints, Absence of
Epithelial Recurrent Erosion Dystrophy
Palmar hyperhidrosis
Plantar hyperkeratosis
Fragile nails
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)
Epidermolysis bullosa inversa dystrophica
JEB-I
Congenital pyloric atresia
Late-onset junctional epidermolysis bullosa
Interleukin 18 Measurement
Joint Instability
Ulnar deviation of the wrist
Ulnar deviation of hand
Atlantoaxial subluxation
Pseudochondroplasia
Cervical cord compression
Epiphyseal dysplasia, multiple, 1
Fairbank disease
Epiphyseal Dysplasia, Ribbing Type
Spatulate ribs
Carpal bone hypoplasia
Childhood onset short-limb short stature
Fragmented, irregular epiphyses
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE
Small epiphyses of the phalanges of the hand
Ulnar metaphyseal irregularity
Radial metaphyseal irregularity
Fragmented epiphyses
Irregular carpal bones
Flared femoral metaphysis
Small wrist bones
Anencephaly
Disruptive Behavior Disorder
Musculoskeletal Pain
Narcissism
Neonatal Abstinence Syndrome
Pain, Postoperative
Gambling, Pathological
Premature Ejaculation
Sciatica
Chronic Headache
Central nervous system depression (disorder)
Kleine-Levin Syndrome
Catch - Finding of sensory dimension of pain
Free-floating anxiety
Mechanical pain
Irrational thoughts
Selenium deficiency
Chronic tension-type headache
Vulvodynia
Cardiovascular symptoms
Schizophrenia Spectrum and Other Psychotic Disorders
Aggressive personality
homicidal
manic symptom
Chronic Daily Headache
Gender disorders
Treatment related secondary malignancy
Chronic pain syndrome
Chronic Cancer Pain
Methamphetamine abuse
Acute postoperative pain
Motor disturbances
Stimulant dependence
headache severe
Physical Anhedonia
Mental Disorders, Severe
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
Liver mass
Central pain
Flavivirus Infections
Acute disseminated encephalitis and encephalomyelitis (ADEM)
Hereditary Motor and Sensory Neuropathies
Roussy-Levy Syndrome (disorder)
Gait, Drop Foot
Hypertrophic neuropathy of infancy
Hereditary motor and sensory neuropathy, types I-IV
Onion bulb formation
Peroneal muscular atrophy (axonal type) (hypertrophic type)
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D
Increased hepatocellular lipid droplets
Vitritis
Small chin
Sclerocornea
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2
Short lower third of face
Abnormality of the nasolacrimal system
Skin Manifestations
Spinal Cord Neoplasms
Central retinal vein occlusion
Disorder of vein
Moderate hereditary factor VIII deficiency disease
Acquired von Willebrand's disease
Harderoporphyria
Acute hepatitis C
Hemophilia A carrier
drug substitution (abuse)
Acquired haemophilia
Dysfibrinogenemia
von Willebrand Disease, Type 2
von Willebrand Disease, Type 2A
von Willebrand Disease, Type 2B
von Willebrand disease type 2M
von Willebrand Disease, Type 2N
Radial scar
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
Leigh syndrome , French Canadian type
Group B Streptococcal Infection
Severe hereditary factor VIII deficiency disease without inhibitor
Ductal Carcinoma In Situ with Microinvasion
Deficiency of factor V [labile]
Guillain-Barre Syndrome, Familial
Hereditary liability to pressure palsies
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Necrotizing encephalopathy, infantile subacute, of Leigh
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2
Deficiency Diseases
Iron Metabolism Disorders
Hemosiderosis
Pasteurellaceae Infections
Cogwheel Rigidity
Hepatic infarction
Lingual-Facial-Buccal Dyskinesia
Hemiballismus
Asterixis
Serum iron low (finding)
Involuntary Movements
Oral Dyskinesia
Serum ceruloplasmin measurement
Ballismus
Basal ganglion degeneration
HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA
Familial apoceruloplasmin deficiency
Neurodegeneration with brain iron accumulation (NBIA)
HERMANSKY-PUDLAK SYNDROME 3
Postpartum Amenorrhea
Yersinia infections
Antibiotic-associated diarrhea
First myocardial infarction
Hyperproinsulinemia
Neoplastic disease of uncertain behavior
Foot-and-Mouth Disease
Incontinence
Corneal dystrophy, Lattice type 3
Metaplastic carcinoma
ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
Carboxypeptidase N Deficiency
Finding of creatine kinase level
Hereditary Coproporphyria
Coproporphyria
CLEFT PALATE, X-LINKED
Cleft Palate with Ankyloglossia
Acute episodes of neuropathic symptoms
COPROPORPHYRIA, DIGENIC
Neonatal hemolytic anemia
Fragmented sleep
Amino acids measurement
Carbamoyl-Phosphate Synthase I Deficiency Disease
Psychogenic coma
Low plasma citrulline
VENOOCCLUSIVE DISEASE AFTER BONE MARROW TRANSPLANTATION, SUSCEPTIBILITY TO
PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Carbamoyl Phosphate Synthase 1 Deficiency
Disorder of fatty acid metabolism
Carnitine palmitoyl transferase 1A deficiency
Recurrent encephalopathy
Transient hyperlipidemia
Prenatal maternal abnormality
Brain Diseases, Metabolic
Myoglobinuria
Respiratory arrest
Double ureter
Elevated total bilirubin
Central Nervous System Metabolic Disorders
Metabolic Disorder, Central Nervous System, Acquired
Brain Diseases, Metabolic, Acquired
Acquired Metabolic Diseases, Nervous System
Hepatic calcification
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
Intracerebral periventricular calcifications
Antenatal intracerebral hemorrhage
Basal ganglia cysts
Macrovesicular hepatic steatosis
Increased muscle lipid content
Elevated serum long-chain fatty acids
Long-chain dicarboxylic aciduria
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4
Decreased plasma free carnitine
Tapered toe
Decreased plasma total carnitine
Blood Sedimentation
Adult T Lymphoblastic Lymphoma
Childhood T Lymphoblastic Lymphoma
IMMUNODEFICIENCY, COMMON VARIABLE, 7
Methylmalonic acidemia
Adult Malignant Peripheral Nerve Sheath Tumor
Methylmalonic aciduria
Duodenal Neoplasms
Leukoplakia, Hairy
Morphine Abuse
diabetes mellitus risk
AROMATASE EXCESS SYNDROME
Neonatal encephalopathy
Cerebellar lesion NOS
Lacrimal Duct Obstruction
Vascular ring
Facial grimacing
Panhypopituitarism
Fetal hydantoin syndrome
Dens evaginatus
Erythrophagocytosis
Talon cusp
Premature development of the breasts
Mirror movements disorder
Deviated nasal septum
Phonophobia
Patellar Dislocation
Hair whorls
Obstruction of nasolacrimal duct
Abnormal number of teeth
Prominent fingertip pads
Low anterior hairline
Bifid uterus
Prominent columella
Abnormality of the cervical spine
Long eyelashes
Low hanging columella
Chorioretinal dystrophy
Poikiloderma with Neutropenia
Duplication of phalanx of hallux
CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL
Plantar crease between first and second toes
Glaucoma Adverse Event
SPHEROCYTOSIS, HEREDITARY, 2
Upswept frontal hair pattern
AML M5b
Upswept frontal hairline
Partial/complete duplication of the phalanges of the hallux
Cornela disease
Papillary cystadenoma of the epididymis
Radial deviation of thumb terminal phalanx
High axial triradius
Abnormality of refraction
Extra cusp on inside of front tooth
Rounded columella
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Body Rocking
Head Banging
Pituitary Apoplexy
Pancreatic Cholera
Neuroretinitis
ACTH-dependent Cushing's syndrome
Cryptogenic Infantile Spasms
Symptomatic Infantile Spasms
Fecal peritonitis
Nodding spasm
Jackknife Seizures
Obsessive compulsive behavior
Hepatic cancer metastatic
Sarcoid arthritis
spasmus nutans
Salaam Seizures
Precordial Catch Syndrome
Early Inflammatory Arthritis
Colonic Diseases, Functional
Lichen Simplex Chronicus
Paroxysmal nocturnal dyspnea
Dementia, familial British
Rotavirus Infections
Scrub Typhus
Dental White Spot
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
Destructive Arthritis
Parkinson Disease, Familial, Type 1
Conotruncal defect
Chronic cough
Legionnaires' Disease
Nose Diseases
Pericementitis
Chills
Adnexal mass
Deep thrombophlebitis
Sickle cell-beta-thalassemia
furuncle
Chorea Acanthocytosis Syndrome
Alveolitis
Regional enteritis
Febrile Neutropenia
Periodontal infection
Sickle cell-beta^+^-thalassemia
Carditis
IIeocolitis
Thromboembolic stroke
Pneumococcal bacteraemia
Renal tubular necrosis
Refractory Cytopenia of Childhood
Immune reconstitution inflammatory syndrome [IRIS]
Intrapartum fever
Primary cholangiocarcinoma of intrahepatic biliary tract
Extraocular retinoblastoma
Hormone measurement
Macular dystrophy, concentric annular
Aplasia/Hypoplasia of the cerebellar vermis
LEBER CONGENITAL AMAUROSIS 7
Cerebellar vermis aplasia or hypoplasia
Cone-Rod Dystrophy 2
Congenital Amaurosis of Retinal Origin
Abnormality of the optic disc
Benign concentric annular macular dystrophy
Delayed sleep phase
winter depression
Congenital total cataract
Cataract, Autosomal Recessive Congenital 1
CATARACT 9, AUTOSOMAL RECESSIVE
Congenital lamellar cataract
Congenital posterior polar cataract
Multiple System Atrophy
Disorder of skeletal muscle
Alpha-B Crystallinopathy
Decreased Achilles reflex
Polar cataract
Cataract, Posterior Polar, 2
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
CARDIOMYOPATHY, DILATED, 1II
CATARACT 16, MULTIPLE TYPES
Late-onset proximal muscle weakness
Embryonal nuclear cataract (disorder)
Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Central Saccular, With Sutural Opacities
Posterior Y-sutural cataract
CATARACT 42
CATARACT 23, MULTIPLE TYPES
Cataract, Pulverulent
CATARACT, COPPOCK-LIKE
Cataract, Congenital Nuclear, Autosomal Recessive 3
CATARACT 17, MULTIPLE TYPES
Nuclear pulverulent cataract
Cataract, congenital, cerulean type 1
Congenital membranous cataract
Cataract, Congenital, Cerulean Type, 2
Sutural cataract
Cataract, Congenital Nuclear, Autosomal Recessive 2
CATARACT 39, MULTIPLE TYPES
CATARACT 2, COPPOCK-LIKE
Propionic acidemia
Juvenile cataract
Coralliform cataract
Inflammatory polyarthritis
Organic acidemias
CATARACT, CONGENITAL, CERULEAN TYPE, 3
CATARACT, CRYSTALLINE ACULEIFORM
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
CATARACT 4, MULTIPLE TYPES
Cataract, Punctate, Progressive Juvenile-Onset
CATARACT 20, MULTIPLE TYPES
DEAFNESS, AUTOSOMAL DOMINANT 40
TYPHUS
Angiomatosis, Bacillary
Typhus group rickettsial disease
Infected ascites
Lymph Node Tuberculosis
Arteriosclerosis Obliterans
Pigmented villonodular synovitis
Adamantinoma
Hereditary Diffuse Leukoencephalopathy with Spheroids
Gait, Shuffling
Fibrosing adenosis
Menstrual spotting
Vasculitis, Central Nervous System
Breast Sclerosing Adenosis
Hereditary Hyperexplexia
Neuronal loss in central nervous system
Lymphoblastic B-cell lymphoma
Aspergillosis
Encephalomyelitis, Acute Disseminated
Ileal Diseases
Intermittent Explosive Disorder
Keratoconjunctivitis, Vernal
Meningism
Myeloid hyperplasia
Polyradiculopathy
Purpura Fulminans
MPS III B
Mumps meningitis
Malignant neoplasm of cerebellum
Neural hearing loss
Pneumonia and influenza
Chronic skin ulcer
Hypoplastic anemia
Cytomegalovirus encephalitis
17-Hydroxysteroid Dehydrogenase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Homocarnosinosis
Acute necrotizing myelitis
Herpes encephalitis
Enterovirus meningitis
AIDS-related primary CNS lymphoma
Inflammatory disease of mucous membrane
Limbic Encephalitis
Central nervous system candidiasis
Brainstem encephalitis
Visual symptoms
Non-obstructive reflux-associated chronic pyelonephritis (disorder)
meningitis/encephalitis
Intracranial Hypotension
Residual Tumor
Drug exanthem
Lymphohistiocytosis
Haemophilus influenzae Meningitis Type B
Invasive Fungal Infections
Aplastic bone marrow
Viral meningoencephalitis
Pulmonary Histiocytosis X
Cerebral abscess
Basal ganglia disease, biotin-responsive
Glut1 Deficiency Syndrome
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
Surfactant Metabolism Dysfunction, Pulmonary, 4
Pediatric Crohn's disease
Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Homocarnosinase deficiency
Reflux nephropathy (disorder)
Bone marrow failure syndrome 1
Bone marrow failure syndrome 2
Multiple sclerosis in children
Immunosuppression
Pelizaeus Merzbacher like disease
HIV-associated neurocognitive disorder
Dystonia 3, Torsion, X-Linked
Pulmonary alveolar proteinosis, congenital
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5
Dominant beta-thalassemia
Hepatic Veno-Occlusive Disease
Leukemoid Reaction
Ocular Headache
Splenic Infarction
Neoplasms, Therapy-Associated
Primary ulcer of intestine
Polyarthralgia
Leiomyosarcoma, Epithelioid
Leiomyosarcoma, Myxoid
Cytomegalovirus Retinitis
Linear Scleroderma
Ectopic tooth
Chronic neutrophilia
Bone Marrow Neoplasms
Throbbing Headache
Bilateral Headache
Generalized Headache
Neutrophilia, Hereditary
Vaso-Occlusive Crisis
Orthostatic Headache
Periorbital Headache
Retro-Ocular Headache
Sharp Headache
Vertex Headache
Impairment, Light Touch Sensation
Pain Sensation Diminished
Pinprick Sensation Diminished
Position Sense Disorders
Proprioceptive Disorders
Thermal Sensation Disorders
Somatosensory Disorders
Undifferentiated (Embryonal) Sarcoma
Hemicrania
Radiculomyelopathy
Neonatal Early-Onset Sepsis
Pericardial mesothelioma
Severe beta thalassemia
Neutropenia, severe chronic
Clinical Chorioamnionitis
Neutrophilia (finding)
Arthritic pains
Idiopathic neutropenia
Neutropenia, Nonimmune Chronic Idiopathic, Adult
Adult Myelodysplastic Syndrome
Elevated leukocyte alkaline phosphatase
NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE
Cerebrooculofacioskeletal Syndrome 1
breast cancer and pregnancy
Pituitary cachexia
Sheehan Syndrome
Isolated Growth Hormone Deficiency, Type II
Isolated gonadotropin deficiency
Isolated lutropin deficiency (disorder)
Idiopathic growth hormone deficiency
Isolated deficiency of pituitary hormone
Necrosis of pituitary gland (postpartum)
Pituitary short stature
15q24 Microdeletion
Advanced sleep phase
Advanced Sleep-Phase Syndrome, Familial
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2
Classical Glioblastoma
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
Sleep Latency
Lean body mass
Non-Hereditary Clear Cell Renal Cell Carcinoma
Peripheral traction retinal detachment
Optically empty vitreous
brain cyst
Sarcoma 180
Hereditary cystatin C amyloid angiopathy
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
Cystatin C measurement
Cerebral Amyloid Angiopathy, Genetic
Age-Related Macular Degeneration type 11
Harlequin type ichthyosis
Phosphorus measurement
ICHTHYOSIS EXFOLIATIVA
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like
Global brain atrophy
cerebellar function
Double Outlet Right Ventricle
Thyroid Hypoplasia
Interrupted aortic arch
POLYDACTYLY, POSTAXIAL
Congenital atresia of aortic valve
Congenital hypoplasia of aortic arch
Ectopic thyroid tissue (disorder)
Congenital atresia of mitral valve
Prolonged PR interval
Muscular ventricular septum defect
Splenic Hypoplasia
Thyroid Agenesis
Coronary sinus defect
ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
Dilatation of the aortic arch
CONOTRUNCAL HEART MALFORMATIONS (disorder)
Hereditary bundle branch system defect
Thoracic aorta calcification
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
Patent or persistent ostium secundum defect (type II)
Patent or persistent sinus venosus defect
Chromosome 5, monosomy 5q35
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
VENTRICULAR SEPTAL DEFECT 3
HYPOPLASTIC LEFT HEART SYNDROME 2
Atrial Septal Defect with Atrioventricular Conduction Defects
Discordant ventriculoarterial connection
Aortic Valve Disease 1
Athyroidal hypothyroidism
Abnormality of cardiovascular system morphology
Hereditary persistence of fetal hemoglobin thalassemia
Stinging Sensation
Perry Syndrome
Toeing-in
Rieger syndrome
Accessory spleen
Stenosis of external auditory canal
Narrowing of ear canal
Pitt-Rogers-Danks Syndrome
Congenital ectopic pupil
Periventricular cysts
Persistent cavum septum pellucidum
Hyperconvex fingernails
Abnormal sternal ossification
Malrotation of small bowel
Prominent glabella
Pseudoepiphyses of the metacarpals
Rib segmentation abnormalities
Craniofacial asymmetry
Metatarsus Varus
Abdominal obesity metabolic syndrome
Tendinitis
Chronic glomerulonephritis
Rheumatic aortic regurgitation
Pulmonary congestion
Mitral and aortic incompetence
Pancreatitis, Acute Necrotizing
Hyperosmolality
Nephritic syndrome
Diffuse malignant mesothelioma
Scleroderma-like secondary cutaneous sclerosis
Severe persistent asthma
Encapsulating Peritoneal Sclerosis
BORNHOLM EYE DISEASE
Retinal Neovascularization
Cystathioninuria
Gamma-cystathionase deficiency
Cystathionase Deficiency
Cellulitis of periorbital region
Periorbital edema
Chronic infectious disease
Lobomycosis
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Periorbital swelling
Granulomatosis
Blood autoimmune disorders
Deficiency of vitamin D3
Dysplasia of colon
Latent Autoimmune Diabetes in Adults
DIABETES MELLITUS, INSULIN-DEPENDENT, 12
Latent autoimmune diabetes mellitus in adult
Recurrent intrapulmonary hemorrhage
CTLA4 Haploinsufficiency
Small vessel vasculitis
Abnormality of the oral cavity
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2
Patterned dystrophy of retinal pigment epithelium
Butterfly-shaped pigmentary macular dystrophy
Interleukin 10 Measurement
Corneal Ulcer
Juvenile nephropathic cystinosis (disorder)
Abnormality of thyroid physiology
Corneal crystalline deposits
Generalized aminoaciduria
Hyperchloremic metabolic acidosis
CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder)
Cystinosis, benign, nonnephropathic
Cystinosis, Infantile Nephropathic
Epithelial corneal erosions
Abnormality of vitamin D metabolism
Elevated intracellular cystine
Tubulointerstitial abnormality
Cystinosis
Primary Hypothyroidism
Benign neoplasm of skin
Osteoma
Epigastric pain
Small intestine carcinoma
Childhood Hepatocellular Carcinoma
Familial Exudative Vitreoretinopathy
Vascular calcification
Transitional cell dysplasia
Nephrogenic rest, intralobar
Nephrogenic rest, perilobar
Biphasic Pulmonary Blastoma
Exudative vitreoretinopathy 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
Pancreaticobiliary Malunion
EXUDATIVE VITREORETINOPATHY 7
Cri-du-Chat Syndrome
Microretrognathia
Monosomy 5p
Severe viral infections
IMMUNODEFICIENCY 24
Defective T cell proliferation
Fascioliasis
alpha-Mannosidosis
Meleda Disease
Sparganosis
Necrotizing fasciitis
Keratolytic winter erythema
glycosphingolipidoses
Giardia duodenalis Infection
Early fontanel closure
Diabetic macular edema
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
Neuronal Ceroid Lipofuscinosis, Congenital
Early closure of the bregma sutures
Platelet thrombus
Secondary malignant neoplasm of kidney
Abnormal rapid eye movement sleep
Pycnodysostosis
Failure of exfoliation of primary tooth
Calcific tendinitis
Perivascular Epithelioid Cell Neoplasms
Skull Base Chordoma
Osteolytic defects of the distal phalanges of the hand
Abnormal pelvis bone ossification
Abnormal maturation of the pelvis bone
vascular aneurysm
Precursor T cell lymphoblastic leukemia/lymphoblastic lymphoma
Vasculitis, Leukocytoclastic, Cutaneous
Headache recurrent
Acute otitis media
Hepatopulmonary Syndrome
Leukocytoclastic vasculitis
MACULAR DEGENERATION, AGE-RELATED, 12
Swine Vesicular Disease
Color Blindness, Red
MYOPIA 1, X-LINKED
Decreased fertility in males
Adrenal hyperplasia, congenital, type 5
Congenital Methemoglobinemia
Decreased testosterone level
Primary gonadal insufficiency
METHEMOGLOBINEMIA TYPE IV
Methemoglobinemia, Type I
17,20-Lyase Deficiency, Isolated
Abnormality of creatine metabolism
Absence of secondary sex characteristics
Enlarged polycystic ovaries
Decreased serum testosterone level
Coronary Artery Vasospasm
Rectal abscess
Perirectal abscess
Absence of bactericidal oxidative 'respiratory burst' in phagocytes
Deficiency or absence of cytochrome b(-245)
Decreased activity of NADPH oxidase
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Recurrent Staphylococcus aureus infections
Autosomal Recessive Chronic Granulomatous Disease
Recurrent Klebsiella infections
Recurrent Aspergillus infections
Recurrent Burkholderia cepacia infections
Recurrent Serratia marcescens infections
End stage COPD
Negative nitroblue tetrazolium reduction test
Chronic granulomatous disease, type II
Dystrophic cardiomyopathy
Anterior Cerebral Circulation Infarction
Anterior Circulation Brain Infarction
Brain Infarction, Posterior Circulation
Venous Infarction, Brain
Varicella, Severe Recurrent
Atypical Mycobacteriosis, Familial, X-Linked 2
ZAP70 deficiency
Recurrent mycobacterial infections
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
Liver Abscess, Amebic
Short Bowel Syndrome
Pneumonia due to Escherichia coli
Transmissible mink encephalopathy
Disease caused by Shigella sonnei
Eccrine spiradenoma
Eccrine dermal cylindroma
Ancell-Spiegler cylindromas
Liquid Tumor
Macular Edema, Cystoid
Arteritis
Female Genital Diseases
Hemorrhoids
Mycoplasma pneumonia
Sinus Tachycardia
Chronic stable plaque psoriasis
Aryl Hydrocarbon Hydroxylase Inducibility
Tricuspid Valve Stenosis
Malignant neoplasm of heart
Caffeine related disorders
Endometriosis of pelvis
Uroporphyrinuria
Sporadic porphyria cutanea tarda
Anterior synechiae
Posterior synechiae
Raised intraocular pressure
Subcapsular cataract
Menopausal symptom
Simple buphthalmos
Irido-corneo-trabecular dysgenesis (disorder)
Hot flushes
GLAUCOMA 3, PRIMARY INFANTILE, B
GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 3, PRIMARY CONGENITAL, A
Late onset congenital glaucoma
Anterior segment mesenchymal dysgenesis
Glaucoma of childhood
GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET (disorder)
GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET
Early-Onset Glaucoma
Central opacification of the cornea
Abnormality of Descemet's membrane
Juvenile open angle
Cardiovascular disease+Pulmonary disease
ANTERIOR SEGMENT DYSGENESIS 6
Thinning of Descemet membrane
Liver Diseases, Parasitic
Opisthorchiasis
Centriacinar Emphysema
Panacinar Emphysema
Opisthorchis felineus Infection
Opisthorchis viverrini Infection
Coumarin Resistance
Focal Emphysema
Hallucinations, Tactile
Food-Drug Interactions
Vitamin D-dependent rickets, type 1
Cancer of Digestive System
Hepatic impairment
Polybrominated biphenyl measurement
Deficiency of monooxygenase
Deficiency of lyase
ICHTHYOSIS, LAMELLAR, 3
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
Glucocorticoid deficiency
WARFARIN SENSITIVITY (disorder)
Niemann-Pick Disease, Type C1
EFAVIRENZ, POOR METABOLISM OF
EFAVIRENZ CENTRAL NERVOUS SYSTEM TOXICITY, SUSCEPTIBILITY TO
Pneumonia in children
Pharyngitis
Gonadotropin-Resistant Ovary Syndrome
Sore Throat
Healing ulcer
Drug Metabolism, Poor, CYP2C19-Related
Hypergonadotropic Ovarian Failure, X-Linked
Acute gastrointestinal hemorrhage
Disease of diaphragm
Coumarin Sensitivity
Basal Ganglia Diseases
Colonic Diseases
Frigidity
Hypoactive Sexual Desire Disorder
Malignant Carcinoid Syndrome
Neuroleptic Malignant Syndrome
Orgasmic Disorder
Psychophysiologic Disorders
Psychosexual Disorders
Gegenhalten
Catatonic Rigidity
Extensor Rigidity
Extrapyramidal Rigidity
Psychasthenic neurosis
Vomiting, Postoperative
Postoperative Nausea and Vomiting
Pseudoparkinsonism
atrial fibrillation new onset
Lenticulostriate Disorders
Nuchal Rigidity
Drug Metabolism, Poor, CYP2D6-Related
response to SSRI
Halothane Hepatitis
Infection by Polymorphus
Cirrhosis - non-alcoholic
Sarcoma, Engelbreth-Holm-Swarm
Deformity of limb
Osteomalacia secondary to drug
ASSAY FOR TACROLIMUS
Arteriolar hyalinosis
Calcineurin Nephrotoxicity
Abnormality of vitamin E metabolism
Abnormality of vitamin A metabolism
Acute hepatic steatosis
Lipoid congenital adrenal hyperplasia
Hypovolemia
Bronze skin
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
EDICT syndrome
46,XY Sex Reversal 3
Adrenal Insufficiency, Congenital
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal
Adrenocorticotropic hormone excess
Increased circulating ACTH level
Ambiguous genitalia, male
Abnormal urine potassium concentration
Abnormality of the Leydig cells
Low maternal serum estriol
Generalized bronze hyperpigmentation
Abnormality of cholesterol metabolism
Decreased circulating androgen level
Induced vaginal delivery
Hypokalemic alkalosis
Ectopic adrenal gland
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
Corticosterone Methyl Oxidase Type I Deficiency
Increased size of penis
Adrenogenital Syndrome
Adrenocortical hyperplasia
Premature adrenarche
Abnormal circulating aldosterone
Female sexual dysfunction
Precocious puberty in males
Ambiguous genitalia due to virilization
Accelerated bone age after puberty
Corticosterone Methyl Oxidase Type II Deficiency
11-Beta-hydroxylase deficiency
Familial hyperaldosteronism type 1
Penile melanosis
Glucocorticoid-remediable familial primary aldosteronism
Familial primary hyperaldosteronism type 1
Hyperpigmented genitalia
Dexamethasone-suppresible primary hyperaldosteronism
Abnormality of hair growth rate
Abnormality of prenatal development or birth
Ambiguous genitalia, female
Increased circulating androgen level
Intermittent fever
Hypoaldosteronism, Hyporeninemic
high renin hypertension
Adrenogenital disorder
Adrenal hyperplasia, bilateral
Froehlich's Syndrome
Sexual Infantilism
Stuttering, Developmental
17-Alpha-Hydroxylase/17,20 Lyase Deficiency
Pelvic Pain
Hyperestrogenism
Follicle stimulating hormone measurement
Choroid Plexus Papilloma
Estradiol measurement
Central Precocious Puberty
Idiopathic central precocious puberty
Early menarche
Vaginal septum
Dysmetabolic syndrome
Genital Infantilism
Endometrial Polyp
Macroorchidism, postpubertal
Aromatase deficiency
Maternal virilization in pregnancy
Eunuchoid habitus
Wasting Syndrome
Mild steroid 21-hydroxylase deficiency
Late onset congenital adrenal hyperplasia
Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency
CARCINOMA, ADRENOCORTICAL, ANDROGEN-SECRETING
Mineralocorticoid deficiency
ADENOMA, CORTISOL-PRODUCING
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Hypercalcemia, Idiopathic, of Infancy
Elfin facies
Hypervitaminosis
Hypercalcemia, Infantile
Idiopathic infantile hypercalcemia - mild form
Adenocarcinoma of liver
Vitamin D-resistant rickets
Hypercalcemia, Infantile, 1
Hypercalcemia, infantile, 2
Antley-Bixler Syndrome with Disordered Steroidogenesis
Pseudobulbar Palsy
EEG with generalized slow activity
Abnormality of the dentate nucleus
Abnormality of central somatosensory evoked potentials
EMG: axonal abnormality
Alkaline phosphatase raised
Vitamin D-dependent rickets
Polymyositis Ossificans
Vitamin D-Dependent Rickets, Type 2A
Polymyositis, Idiopathic
Atrichia
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Deformed rib cage
Bulging of the costochondral junction
Hypocalcemic seizures
Enlargement of the costochondral junction
Abdominal wall muscle weakness
Subperiosteal bone resorption
Abnormal conjugate eye movement
Limb dysmetria
SPINOCEREBELLAR ATAXIA 37
Uncoordinated limb movement
ovarian serous tumor
Epithelioid mesothelioma, malignant
Otofaciocervical Syndrome
Idiopathic Hypercatabolic Hypoproteinemia
Protein-Losing Enteropathies
COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY
Lassa Fever
Infections, Arenavirus
Cobblestone Lissencephaly
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, CONGENITAL, 1C
Cerebellar cyst
alpha-Dystroglycanopathies
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9
Conjunctival Diseases
Ovarian Mucinous Adenocarcinoma
spinal cord involvement
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
Hantavirus infection in conditions classified elsewhere and of unspecified site
Partial chromosome Y deletion
Spermatogenic Failure, Nonobstructive, Y-Linked
Male sterility due to Y-chromosome deletions
Papillary transitional cell neoplasm of low malignant potential
Severe major depression with psychotic features
dopamine beta hydroxylase deficiency
Pure Autonomic Failure
Retrograde ejaculation
Depression, psychotic
Intermittent hypothermia
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
Disorder of branched-chain amino acid metabolism
MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II
Cognition
Gingival Neoplasms
Benign neoplasm of esophagus
Carcinoma in situ of esophagus
Respiratory quotient
Stage II Colorectal Cancer
MIRROR MOVEMENTS 1
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Stage II Colorectal Cancer AJCC v7
Corpus Callosum Malformation
ESOPHAGEAL CARCINOMA, SOMATIC
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2
Achondrogenesis, type IB (disorder)
Intramuscular Myxoma
Congenital corneal dystrophy
Corneal Dystrophy, Congenital Stromal
EHLERS-DANLOS SYNDROME, PROGEROID FORM
Increased corneal thickness
aspirin intolerance
Infant, Premature, Diseases
Intestinal Perforation
Ocular Hypotension
Overanxious disorder
Tachycardia, Ectopic Junctional
Vasovagal syncope
Water Intoxication
Aneurysm, Ruptured
Coronavirus Infections
Recurrent depression
Left atrial hypertrophy
Borderline hypertension
Ventricular dilatation (disorder)
Anterior myocardial infarction
Lone atrial fibrillation
High altitude pulmonary hypertension
Dysgerminoma of ovary
Steroid-sensitive nephrotic syndrome
H/O: depression
Moderate obesity
Cardiovascular Pathology
Hypertensive emergency
Persistent dry cough
asthma with copd
skin fold (abnormality)
Infantile nystagmus syndrome
Chronic uremia
Familial neurocardiogenic syncope
Noncompaction cardiomyopathy
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE
Left Main Coronary Artery Stenosis
Acute Anterior Wall Myocardial Infarction
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3 (finding)
Refractory Thrombocytopenia
Complex regional pain syndrome I, unspecified
Stroke, Lacunar
One Vessel Coronary Disease
Renal Artery Disease
Mild Bronchopulmonary Dysplasia
Vocal Cord Paralysis
Laryngeal Paralysis
Inappropriate behavior
Hand muscle weakness
Voice Fatigue
Familial Motor Neuron Disease
Vertical gaze palsy
Behavioral syndrome associated with physiological disturbance and physical factors
Hypophonia
Neuronopathy, Distal Hereditary Motor, Type Viib
Vertical supranuclear gaze palsy
Abnormal lower motor neuron morphology
PNEUMOTHORAX, PRIMARY SPONTANEOUS
Short stepped shuffling gait
Subependymal Glioma
Laminar heterotopia
Lissencephaly and agenesis of corpus callosum
SUBCORTICAL BAND HETEROTOPIA, X-LINKED
Subcortical Band Heterotopia
Abnormal cortical gyration
Classical Lissencephalies and Subcortical Band Heterotopias
Double cortex
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
Facial Neoplasms
Basal cell nevus
Defective DNA repair after ultraviolet radiation damage
Nasal obstruction present finding
Aromatic amino acid decarboxylase deficiency
Deficiency of aromatic-L-amino-acid decarboxylase
Temperature instability
Body temperature instability
Circling behavior
Congenital Hyperinsulinism
Decreased CSF homovanillic acid
Hermaphroditism
Neoplasms, Hormone-Dependent
Dentinogenesis imperfecta - Shield's type III (disorder)
Dentinogenesis imperfecta without osteogenesis imperfecta
Lupus Flare
Lipomatous neoplasm
Dyggve-Melchior-Clausen syndrome
Recurrent ear infections
Type I transferrin isoform profile
Congenital disorder of glycosylation type 1r
Oromotor apraxia
Neurodevelopmental delay
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence
Polymorphous low grade adenocarcinoma
MENTAL RETARDATION, X-LINKED 102
Lymphogranuloma Venereum
Roberts-SC phocomelia syndrome
Small face
Hypoplasia of the cochlea
Lipid Metabolism, Inborn Errors
Drug-induced neutropenia
Myeloperoxidase Deficiency
Hyperphenylalaninemia, Non-Phenylketonuric
Infection pyogenic
Myocardial necrosis
2,4-Dienoyl-CoA Reductase Deficiency
Hemoglobin M Disease
Paraneoplastic Encephalomyelitis
Acute appendicitis NOS (disorder)
Postoperative endophthalmitis
Tinea corporis (disorder)
Vaginal Diseases
Candidiasis of the esophagus
Myofibromatosis
Desmoplastic Small Round Cell Tumor
Right ventricular dilatation
Infantile myofibromatosis
Peroneal muscle atrophy
Sclerosing Epithelioid Fibrosarcoma
Restrictive heart failure
CARDIOMYOPATHY, DILATED, 1S
Hyporeflexia of lower limbs
Scapuloperoneal weakness
GIANT AXONAL NEUROPATHY 1
CARDIOMYOPATHY, DILATED, 1I
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R
Reduced systolic function
Complement Factor D Deficiency
Abnormal posture
Woodhouse Sakati syndrome
Visual disturbance
Focal Dystonia
Jensen syndrome
Infantile sensorineural hearing impairment
Postlingual sensorineural hearing impairment
DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder)
Auditory neuropathy
Auditory neuropathy spectrum disorder
Labyrinthine disorder
Dominant sensorineural hearing loss
Diseases of inner ear
Deafness, Autosomal Dominant 9
Cochlear degeneration
Autoimmune sensorineural hearing loss
Usher syndrome, type 1F
Abnormality of the vestibulocochlear nerve
Kenny-Caffey syndrome
Cervical aortic arch
Emanuel syndrome
Supernumerary der(22)t(8;22) syndrome
Mitochondrial hepatopathy
Decreased activities of mitochondrial-encoded respiratory chain complexes
Periportal fibrosis
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
Decreased activity of mitochondrial respiratory complexes
Deoxyguanosine Kinase Deficiency
Decreased activity of mitochondrial respiratory chain
Depletion of mitochondrial DNA in liver
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4
PORTAL HYPERTENSION, NONCIRRHOTIC
Tracheal Stenosis
Holoprosencephaly
Bicornuate uterus
Septate vagina
Smith-Lemli-Opitz Syndrome, Type I
Smith-Lemli-Opitz Syndrome, Type II
Subluxation of hip joint
Obstruction of pelviureteric junction
Overriding toe
Lathosterolosis
Periventricular gray matter heterotopia
Elevated 7-dehydrocholesterol
Severe photosensitivity
Broad alveolar ridges
Facial capillary hemangioma
Proximal placement of thumb
Desmosterolosis
Postaxial foot polydactyly
7-Dehydrocholesterol Reductase Deficiency
Aplasia/Hypoplasia of the cerebellum
Head circumference small for gestational age
Fibular polydactyly
Broad alveolar processes of jaw
Q Fever
Malignant neoplasm of ureteric orifice
Chondrodysplasia punctata, X-linked dominant type
Acute Q fever
Chronic Q Fever
Coxiella burnetii Infection
Anemia, Megaloblastic
Deficiency of dihydrofolate reductase
Pneumonia associated with AIDS
Myoclonus, Eyelid
Postnatal microcephaly
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
Freeman-Sheldon syndrome
Genee-Wiedemann syndrome
Supernumerary vertebra
Chromosome 11p deletion syndrome
Midgut malrotation
Non-midline cleft lip
Methemoglobinemia, Type Ii
Nadh-Cytochrome B5 Reductase Deficiency, Type I
Nadh-Cytochrome B5 Reductase Deficiency, Type Ii
Leukemia, Monocytic, Chronic
Carcinoma of anal canal
Solitary Pulmonary Nodule
Severe Bronchopulmonary Dysplasia
Low frequency deafness
Progressive hearing impairment
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
Premature Ovarian Failure 2a
Euthyroid Sick Syndromes
Thyroxine measurement
Thyrotoxicosis
Uniparental disomy, paternal, chromosome 14
Urethral Stricture
Horseshoe Kidney
Longitudinal split nail
Taurodontism
Congenital phimosis
Pterygium of nail
X-Linked Dyskeratosis Congenita
Leukokeratosis
NIEMANN-PICK DISEASE, TYPE C2
Aplastic/hypoplastic toenail
Inherited bone marrow failure syndrome
Reticulated skin pigmentation
Reticular pigmentation pattern
Anorectal Malformations
GROWTH RETARDATION, PRENATAL, WITH PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA
Rough bone trabeculation
Generalized hypopigmentation of hair
Abnormality of female internal genitalia
Large elongated pulp chamber
Pyruvate Dehydrogenase Complex Deficiency Disease
liver disease parenchymal
Decreased activity of the pyruvate dehydrogenase complex
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements
Autoimmune cholangitis
Congenital immunodeficiency disease
Congenital disorder of glycosylation, type 2C
Colon Neuroendocrine Tumor G1
Leukocyte Adhesion Deficiency, Type III
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency
Increased urine alpha-ketoglutarate concentration
Congenital hydronephrosis
Chromosome 3q29 Deletion Syndrome
Atkin syndrome
MENTAL RETARDATION, X-LINKED 2 (disorder)
Mental Retardation, X-Linked 9
MENTAL RETARDATION, X-LINKED 14
MENTAL RETARDATION, X-LINKED 18
Mental Retardation, X-Linked 19
MENTAL RETARDATION, X-LINKED 20
MENTAL RETARDATION, X-LINKED 23
Mental Retardation, X-Linked 30
MENTAL RETARDATION, X-LINKED 34 (disorder)
Mental Retardation, X-Linked 47
MENTAL RETARDATION, X-LINKED 89
MENTAL RETARDATION, X-LINKED 91 (disorder)
Mental Retardation, X-Linked 92
MENTAL RETARDATION, X-LINKED 78
MENTAL RETARDATION, X-LINKED 82
MENTAL RETARDATION, X-LINKED 84
Mental Retardation, X-Linked 45
MENTAL RETARDATION, X-LINKED 77
Mental Retardation, X-Linked 46
MENTAL RETARDATION, X-LINKED 81
Mental Retardation, X-Linked 63
MENTAL RETARDATION, X-LINKED 42
MENTAL RETARDATION, X-LINKED 73
Creatine deficiency, X-linked
MENTAL RETARDATION, X-LINKED 53
MENTAL RETARDATION, X-LINKED 72
Mental Retardation, X-Linked 58
MENTAL RETARDATION, X-LINKED 50
MENTAL RETARDATION, X-LINKED 93 (disorder)
MENTAL RETARDATION, X-LINKED 95
Mental Retardation, X-Linked, Znf711-Related
MENTAL RETARDATION, X-LINKED 96
MENTAL RETARDATION, X-LINKED 90 (disorder)
MENTAL RETARDATION, X-LINKED 88 (disorder)
MENTAL RETARDATION, X-LINKED 98
MENTAL RETARDATION, X-LINKED 99
MENTAL RETARDATION, X-LINKED 41
MENTAL RETARDATION, X-LINKED 100
RETINAL CONE DYSTROPHY 1
Hypoplasia of iris
Axenfeld-Rieger syndrome
AL-RAQAD SYNDROME
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism
Amelogenesis Imperfecta, Type IV
Abnormality of the mastoid
Grandiose delusions
Bilateral cleft lip
Sparse eyebrow
Palate fistula
High anterior hairline
Bilateral cleft palate
Agenesis of lateral incisor
Hyponasal speech
OROFACIAL CLEFT 15
Absence of lateral incisor
Hole in roof of mouth
Congenital Foot Deformity
Split foot
Prieto X-linked mental retardation syndrome
Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Auriculo-condylar syndrome
Oligodactyly
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
Gigantism
Muscular Dystrophy, Animal
Tabes Dorsalis
Blood group deletion syndrome
X-linked muscular dystrophy with abnormal dystrophin
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Myopathy with Abnormal Lipid Metabolism
Severe childhood autosomal recessive muscular dystrophy
Benign congenital myopathy
Proximal weakness
Cardiac ventricular thrombosis
Absence of muscle
Cerebral seizure
Cardiomyopathy associated with another disorder
Calf muscle pseudohypertrophy
Limb-girdle muscular dystrophy, type 2E
Beta-sarcoglycanopathy
Thyroid Hormone Resistance Syndrome
Dmd-Associated Dilated Cardiomyopathy
Isodicentric Chromosome 15 Syndrome
DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE
INTERMEDIATE MUSCULAR DYSTROPHY
Carotid Body Paraganglioma
Mucosal ulcer
Sarcosinemia
Paraganglioma of head and neck
Hereditary Paraganglioma
Mitochondrial Complex II Deficiency
Carney Triad
Osteitis
Oral pain
Abnormality of the sacroiliac joint
Autosomal recessive hypophosphatemic vitamin D refractory rickets
Dental abscess
Rickets of the lower limbs
Elevated alkaline phosphatase of bone origin
Distal femoral bowing
Hypophosphatemic Rickets, Autosomal Recessive, 2
Abnormal trabecular bone morphology
Pseudo-fractures
Low serum calcitriol
Abnormality of renal excretion
Renal hypophosphatemia
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
First degree atrioventricular block
Charcot-Marie-Tooth disease, X-linked, 1
3-Methylglutaconic aciduria type 3
Myotonic Phenomenon
Percussion Myotonia
Syncope, Cardiogenic
Obsessive-compulsive trait
Frontal balding
Spermatocytic seminoma
Tumor of Rete Testis
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
Anemia, Hypochromic Microcytic, With Iron Overload
Ovotesticular Disorders of Sex Development
46,XY Sex Reversal 4
HFE-Associated Hereditary Hemochromatosis
Iron deficiency anemia in children
Ectopic kidney
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6
Hyperdistention
Congenital atresia of nasopharynx
Other specified congenital malformations of respiratory system
CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 23
Polynesian Bronchiectasis
Diseases of mitral valve
Wrinkly skin syndrome
Maternally Inherited Leigh Syndrome
Parakeratosis
Episcleritis
Hallucinogen Persisting Perception Disorder
Hypocomplementemic urticarial vasculitis
Juvenile Spinal Muscular Atrophy
Chronic non-A non-B hepatitis
Plagiocephaly
Muscular Atrophy, Spinal, Type II
Distal Spinal Muscular Atrophy
Motor Neuron Disease, Upper
Difficulty running
Spinal Muscular Atrophies of Childhood
Acquired Toxoplasmosis
Plagiocephaly, Nonsynostotic
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Distal lower limb muscle weakness
Proximal lower limb amyotrophy
Muscular atrophy, spinal, infantile chronic form
Inherited Peripheral Neuropathy
Decreased patellar reflex
Type 2 muscle fiber predominance
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
Asymmetry of the posterior cranium
Rhomboid shaped head
Flattening of head
Flattening of cranial vault
Flat head
Congenital contracture
Keratoderma, Palmoplantar, Epidermolytic
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)
Axonal degeneration
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Segmental peripheral demyelination/remyelination
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia
LETHAL CONGENITAL CONTRACTURE SYNDROME 5
Sleepy facial expression
Choline Deficiency
HSAN Type IV
Hereditary Sensory Autonomic Neuropathy, Type 5
Transposition of Great Vessels
Hereditary Sensory Radicular Neuropathy
Giant cell carcinoma of lung
Sensory Neuropathy, Hereditary
Primitive reflexes (palmomental, snout, glabellar)
Cerebellar Ataxia, Deafness, and Narcolepsy
Childhood Myelodysplastic Syndrome
Hereditary Sensory and Autonomic Neuropathy Type Ie
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
Autosomal dominant cerebellar ataxia
TATTON-BROWN-RAHMAN SYNDROME
Communicating Hydrocephalus
Muscular Dystrophy, Scapulohumeral
Other specified immunodeficiencies
IMMUNODEFICIENCY 40
Stuttering
Skin dimple
Congenital disorder of glycosylation type 1J
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36
MYASTHENIC SYNDROME, CONGENITAL, 13
Cranioectodermal Dysplasia
3C syndrome
Hydrocephalus Adverse Event
DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR
Adenomatoid Tumor
Alternating esotropia
Microcephaly autosomal dominant
Ligament rupture
Neuroleptic-Induced Tardive Dyskinesia
Ventricular Fibrillation, Paroxysmal Familial, 2
VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33
Language Development Disorders
Purine-Pyrimidine Metabolism, Inborn Errors
Poisoning by fluorouracil
recurrent gastric cancer
Depressive personality disorder
Semantic-Pragmatic Disorder
Auditory Processing Disorder, Central
Gastrooesophageal cancer
Long ear
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal eating behavior
Reduced dihydropyrimidine dehydrogenase activity
1p21.3 microdeletion syndrome
Dihydropyrimidinase deficiency
Extrapyramidal dyskinesia
Pyramidal tract disease
Morphological abnormality of the pyramidal tract
Delusional disorder
Spermatocele
Reading Disabilities
Adrenal Cortex Diseases
Cluster A personality disorder
Kleptomania
Memory, Short-Term
Schizoid Personality Disorder
Ritual compulsion
opioid use
Duration of sleep
Acquired Language Disorders
Sexual Dysfunction
Processing speed
Opium addiction
Childhood aggression
Spinal cord myoclonus
Limb myoclonus
Obsessive-Compulsive Personality
Gambling
TREMOR, HEREDITARY ESSENTIAL, 1
Child Development Disorders, Pervasive
Chronic Motor or Vocal Tic Disorder
Dependent Personality Disorder
Tic disorder
Transient Tic Disorder
Attention Deficit and Disruptive Behavior Disorders
Expressed Emotion
Tic Disorders, Vocal
RISK-TAKING BEHAVIOR
Childhood Tic Disorders
Motor Tic Disorders
Post-Traumatic Tic Disorder
NOVELTY SEEKING PERSONALITY TRAIT
Oppositional Behavior
Attention deficit hyperactivity disorder, combined type
AUTONOMIC NERVOUS SYSTEM DYSFUNCTION
Torticollis, Psychogenic
Torticollis, Intermittent
Benign essential blepharospasm
Chondritis
Polychondritis, Relapsing
Salivary Gland Diseases
Dacryoadenitis
Asherman Syndrome
Polychondritis
Pelvic pain female
Central nervous system leukaemia
Atrophy of the dentate nucleus
Benign adult familial myoclonic epilepsy
Subcorneal pustular dermatosis
IgA pemphigus
Symphysis Pubis Dysfunction
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy
Hypotrichosis And Recurrent Skin Vesicles
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, AND MILD PALMOPLANTAR KERATODERMA WITH OR WITHOUT WOOLLY HAIR
Arm span
Bullous impetigo
Keratoderma
Staphylococcal Scalded Skin Syndrome
Nikolsky sign
Multiple allergies
Keratosis palmoplantaris striata 1
ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE
Diffuse palmoplantar hyperkeratosis
Streaks of hyperkeratosis along each finger onto the palm
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Cardiomyopathy, Dilated, 1BB
Epidemic keratoconjunctivitis
Natal Teeth
Mononeuritis Multiplex
Familial cardiomyopathy
Dilatation of aorta
Sensory polyneuropathy
Other cardiomyopathies
Hay-Wells syndrome
Neonatal Death
Diffuse infiltrative lymphocytosis syndrome
Naxos disease
Skin Fragility-Woolly Hair Syndrome
Palmoplantar keratosis with erythema and scale
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
KERATOSIS PALMOPLANTARIS STRIATA II
Cardiomyopathy dilated with Woolly hair and keratoderma
Ectodermal dysplasia/ skin fragility syndrome
Epidermolysis bullosa, lethal acantholytic
Ventricular Fibrillation Adverse Event
Tapered distal phalanges of finger
Widely spaced toes
continuous electrocardiogram ventricular tachycardia
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
Patchy palmoplantar keratoderma
Oligodontia
CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS
Radicular Cyst
Hereditary Opalescent Dentin (disorder)
Dentin dyspalsia, Shields type 2
Dental Pulp Stone
Dental Diseases
Periapical bone loss
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1
Hearing loss, sensorineural (high frequency)
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39, WITH DENTINOGENESIS IMPERFECTA 1
Dentinogenesis imperfecta limited to primary teeth
Opalescent dentin
True denticles
False denticles
Bone loss around tooth root
Ear Diseases
Acquired clubfoot
Hitch-hiker thumb
Cervical kyphosis
Absent or minimally ossified vertebral bodies
Hypoplastic cervical vertebrae
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
Atelosteogenesis type 2
De La Chapelle Dysplasia
Horizontal sacrum
Glabellar hemangioma
Costal cartilage calcification
Hypoplasia of the femoral head
Limited elbow flexion
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant
Hypertrophic auricular cartilage
Short sacroiliac notch
Laryngotracheal stenosis
Abnormality of the patella
Cystic lesions of the pinnae
Dumbbell-shaped femur
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1
Adult Oligodendroglioma
Childhood Oligodendroglioma
Oligodendroblastoma
Mixed Oligodendroglioma-Ependymoma
Hashimoto's encephalitis
Cartilage-hair hypoplasia
Congenital hypoplasia of breast
HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA
Increased female libido
Hypothalamic gonadotropin-releasing hormone deficiency
Anterior hypopituitarism
Abnormality of body height
Pseudorabies
Skin Pigmentation
Skin pigmentation - finding
Ventricular Outflow Obstruction, Right
Bifid tongue
Accessory kidney
Short palate
Duplication of the distal phalanx of hand
Broad toe
Curly eyelashes
Median cleft lip and palate
Hypoplastic palate
Bifid distal phalanx of toe
Short hard palate
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
Cleft tongue
Transposition of the Great Arteries, Dextro-Looped 1
Dextrotransposition of aorta
Hypoplasia of right heart
Congenital atresia of pulmonary artery
Right hypoplastic heart syndrome
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
physical symptom
Absent or delayed speech development
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
Meige Syndrome
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Adult-Onset Idiopathic Focal Dystonias
Adult-Onset Idiopathic Torsion Dystonias
Autosomal Dominant Familial Dystonia
Autosomal Recessive Familial Dystonia
Childhood Onset Dystonias
Dystonia, Secondary
Dystonias, Sporadic
Pseudodystonia
Motor Manifestations
Dystonia 6, torsion (disorder)
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
Dystonia, Focal, Task-Specific
Segmental dystonia
Musician's Dystonia
Familial torsion dystonia
Torticollis, familial
Writer's Cramp
Well-differentiated papillary mesothelioma
Peritoneal Mesothelioma
stage, bladder cancer
Aganglionosis, Colonic
Segmental Autonomic Dysfunction
Overcurvature of nail
Peripheral Autonomic Nervous System Diseases
Nervous System Diseases, Parasympathetic
Nervous System Diseases, Sympathetic
Aganglionosis, Rectosigmoid Colon
Contractures of the interphalangeal joint of the thumb
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Congenital Intestinal Aganglionosis
Carcinoma, Basosquamous
Polyneuropathy, Motor
Congenital dysmotility of small intestine
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
Decreased number of large peripheral myelinated nerve fibers
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related
Mngie Without Leukoencephalopathy
Mitochondrial DNA Depletion Syndrome 8A
Mitochondrial neurogastrointestinal encephalomyopathy syndrome
Abnormality of the mitochondrion
Abnormality of the extraocular muscles
Atrophic muscularis propria
Autonomic visceral myopathy
Degenerative enteric myopathy
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
Lipoid Proteinosis of Urbach and Wiethe
Scar Tissue
Tongue nodules
Malattia Leventinese
Patchy alopecia
Warts
Abnormality of the gingiva
Bilateral intracranial calcifications
recurrent muscle twitches (symptom)
Koilonychia
Intolerant of heat
Developmental absence of tooth
Absent nipple (finding)
Anhydrotic Ectodermal Dysplasias
Chromosome 11p11.2 Deletion Syndrome
Periorbital hyperpigmentation
Hypoplastic-absent sebaceous glands
Aplasia/Hypoplastia of the eccrine sweat glands
Tooth Agenesis, Selective, X-Linked, 1
Protruding upper lip
Abnormality of oral mucosa
Everted upper lip vermilion
Drooping upper lip
Missing more than six teeth
Retinal ischemia
Olfaction Disorders
Sense of smell altered
Ligamentum flavum hypertrophy
Elephantiasis
Endemic goiter
Hepatorenal Syndrome
Lentigo
Marginal ulcer
Sturge-Weber Syndrome
Uterovaginal prolapse
Cerebrovascular Insufficiency
Human herpesvirus 8 infection
Intestinal necrosis
Systemic sclerosis [scleroderma]
QUESTION MARK EARS, ISOLATED
Diabetic Heart Disease
AURICULOCONDYLAR SYNDROME 3
Question mark ear
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7
White forelock
Short segment Hirschsprung's disease
blue iris (physical finding)
White eyelashes
White eyebrow
WAARDENBURG SYNDROME, TYPE 4A
Olfactory lobe agenesis
Waardenburg Syndrome Type 2
Waardenburg Syndrome, Type 4b
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
Grey eyelashes
Grey eyebrow
Blonde eyebrow
Abnormal macular morphology
Primary Raynaud Phenomenon
Upper Airway Resistance Sleep Apnea Syndrome
Limited jaw opening
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
Limited jaw mobility
Decrease in jaw opening
Neuronal intestinal dysplasia
ABCD syndrome
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
Staphylococcal toxic shock syndrome
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE
Lacrimoauriculodentodigital syndrome
Congenital duodenal obstruction due to malrotation of intestine
Rudiger syndrome 1
ADULT SYNDROME
Autoimmune necrotizing myopathy
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
SPINOCEREBELLAR ATAXIA 26
Impaired horizontal smooth pursuit
Adenoma of rectum
Congenital abnormal Synostosis
Hypertrichosis, universal
HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE (disorder)
Hippocampal atrophy
Periosteal Disorder
Bipartite clavicle
Pseudoarthrosis of clavicle
Unilateral breast hypoplasia
Hypoplastic nasal tip
Hemihypotrophy of lower limb
Ridged fingernail
Coronal craniosynostosis
Broad hallux phalanx
Midline defect of the nose
Hypotrophic nasal tip
Aplasia of nasal tip
Central cleft of nose
Maxillary Neoplasms
Trophoblastic Neoplasms
Middle Ear Cholesteatoma
Donohue Syndrome
Perinatal disorder
Laron Syndrome
Papillary transitional cell carcinoma
Troyer syndrome
Juvenile aponeurotic fibroma
Chromosome 7, trisomy 7p
Metastatic Endometrial Carcinoma
Chondroid Hamartoma
Hyperactive deep tendon reflexes
Moderate global developmental delay
Hypomagnesemia 4, Renal
Axenfeld-Rieger Syndrome, Type 1
Neural Glioblastoma
Familial primary hypomagnesemia with normocalciuria and normocalcemia
Neuronal heterotopia
Orofaciodigital syndrome 3
Bladder Exstrophy
Radial polydactyly
Acrocephalopolysyndactyly type 2
Cloverleaf skull
Aplasia of the middle phalanx of the hand
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly
CARPENTER SYNDROME 2
Cutaneous finger syndactyly
Cloverleaf cranium shape
Papillary adenocarcinoma
Dermoid Cyst
Ear Neoplasms
Erythroplasia
Peripheral Nervous System Neoplasms
Pleural Neoplasms
Staphylococcal Pneumonia
Pneumoperitoneum
Adult Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma
Bone lesion
Squamous Papilloma of the Larynx
Greig cephalopolysyndactyly syndrome
Anal cancer recurrent
Cervical carcinoma stage IIB
Small cell lung cancer extensive stage
Recurrent Endometrial Cancer
Thymoma malignant invasive
Melanoma recurrent
stage, pancreatic cancer
Uterine Carcinosarcoma
Combined small cell carcinoma
Schneiderian papilloma
Clear cell sarcoma of kidney
Malignant phyllodes tumor of breast
Cervical Adenosquamous Carcinoma
Dysplastic oral leukoplakia
Fibrosis of bile duct
Cerebral metastasis
Biliary carcinoma
cervical cancer metastasis
Adenocarcinoma of lung, stage III
Recurrent Lung Carcinoma Cell Type Unspecified
Stage IV Lung Cancer AJCC v7
Recurrent lung cancer
Lung cancer stage I
Adenocarcinoma with neuroendocrine differentiation
Multiple basal cell papillomata
Disorder of skull
Asthmatic bronchitis
Calcifying Fibrous Pseudotumor
Esophageal Basaloid Carcinoma
Invasive Apocrine Breast Carcinoma
Mucoepidermoid carcinoma of parotid gland
Recurrent Head and Neck Carcinoma
Squamous Lung Dysplasia
Supratentorial Glioblastoma
Pineal parenchymal tumor of intermediate differentiation
Mature Teratoma
Testicular Intratubular Germ Cell Neoplasia, Unclassified
Eccrine Poroma
Uterine Corpus Carcinosarcoma
Intimal sarcoma
mucoepidermoid carcinoma of lung
carcinosarcoma of lung
Other stomatitis and mucositis (ulcerative)
Ankyloblepharon filiforme adnatum and cleft palate
Epidermal growth factor receptor positive non-small cell lung cancer
Merkel Cell Polyomavirus Infection
Primary mucoepidermoid carcinoma of lung
Primary adenocarcinoma of lung
Recurrent Childhood Glioblastoma
Non-Metastatic Childhood Soft Tissue Sarcoma
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
Recurrent bronchiolitis
Fibromatosis, Palmar
Recurrent Glioblastoma
Squamous non-small cell lung cancer
Afibrinogenemia
Postoperative peritoneal adhesions
Hereditary, Type VII, Motor and Sensory Neuropathy
Spinal ataxia
Congenital hypomyelinating neuropathy
myelinopathy
Muscle weakness of upper limb
Hypertrophic nerve changes
Charcot-Marie-Tooth disease, Type 1D (disorder)
Abnormality of the cranial nerves
NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT
NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL RECESSIVE
DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT
Cranial nerve abnormality
Peripheral hypomyelination
Ulnar claw
Congenital scoliosis
Incomplete spermatogenic arrest
Bifunctional peroxisomal enzyme deficiency
FANCONI RENOTUBULAR SYNDROME 3
Wolcott-Rallison syndrome
OVARIOLEUKODYSTROPHY
Decreased circulating progesterone
Vanishing white matter disease
Cessation of head growth
Spastic tetraparesis
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)
Long lower third of face
Tall chin
Cleft lip or lips
Stage IV Pancreatic Cancer
CATARACT, POSTERIOR POLAR, 1
Age-related cortical cataract
Mature cataract
Rift Valley Fever
Cardiovirus Infections
Fahr's syndrome (disorder)
PARKINSON DISEASE 18
Autosomal dominant late onset Parkinson disease
Suppurative Periapical Periodontitis
Relapsing Fever
Increased antibody level in blood
Immune neutropenia
Escherichia coli septicemia
Globulin gamma serum plasma increased result
Ligneous conjunctivitis
Hyperglobulinemia
Neutropenia, Severe Congenital, Autosomal Dominant 1
Plasminogen Deficiency, Type I
Elevated immunoglobulin levels
Cyclic Hematopoesis
Recurrent fevers
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
Gangliosidosis GM1
Intestinal epithelial dysplasia
Mesothelioma, Cystic
Pseudohypoaldosteronism, Type I
Chylothorax, congenital
Fenestration (morphologic abnormality)
Osteopoikilosis (disorder)
Hyperacusis
Skin Wrinkling
Pelvic kidney
Dysgraphia
Dermatofibrosis lenticularis disseminata
Cutis Laxa, Autosomal Dominant
Striae gravidarum
Cutis laxa, acquired type
Sacral dimples
Dissection of proximal aorta
Skin symptom
Schimke immunoosseous dysplasia
Congenital supravalvular aortic stenosis
Medial flaring of the eyebrow
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
Dural ectasia
Periorbital fullness
COPD, Severe Early-Onset
Constrictive Bronchiolitis
CUTIS LAXA, AUTOSOMAL DOMINANT 1
Abnormality of digit
Postaxial polydactyly type A
Overfriendliness
Impaired visuospatial constructive cognition
Nystagmus-induced head nodding
Hepatoportal sclerosis
Other congenital anomalies of nervous system
Band Heterotopia of Brain
BAND HETEROTOPIA
Atrial arrhythmia
Sustained ventricular tachycardia
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
Decreased cervical spine flexion due to contractures of posterior cervical muscles
Muscular dystrophy, tardive Emery-Dreifuss type, with contractures
Type 1 muscle fiber atrophy
Primary atrial arrhythmia
Inability to touch chin to chest
Pseudohypoaldosteronism, Type II
Bacteriuria
Infection by Pneumocystis jirovecii (disorder)
NEPHROTIC SYNDROME, TYPE 10
Uterus bilocularis
Aneurysm of celiac artery
High-output congestive heart failure
Venous varicosities of celiac and mesenteric vessels
Mesenteric artery aneurysm
HEREDITARY HEMORRHAGIC TELANGIECTASIA 1
Dilatation of mesenteric artery
Dilatation of celiac artery
Intestinal Volvulus
Autoimmune Hypophysitis
Segmental vitiligo
Abdominal Neoplasms
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital stenosis of aortic valve
Rheumatic aortic stenosis
Increased muscle glycogen content
Glycogen Storage Disease XIII
Alcohol Withdrawal-Induced Major Motor Seizure
Status Epilepticus, Alcohol Withdrawal-Induced
Pancreatic carcinoma non-resectable
Deep overbite
Posterior lingual occlusion of mandibular teeth
Overbite
Gestosis
RUBINSTEIN-TAYBI SYNDROME 2
Altitude Sickness
Somatostatinoma
Benign neoplasm of adrenal gland
Benign neoplasm of aortic body and other paraganglia
Hematocrit increased
Chronic mountain sickness
recurrent pheochromocytoma
Malignant Adrenal Medulla Neoplasm
Malignant neoplasm of aortic body and other paraganglia
Hemoglobin increased
Pancreatic Somatostatinoma
Erythrocytosis, Familial, 4
Altitude Hypoxia
Elliptocytosis found
Elliptocytosis 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 11
Alpha trait thalassemia
Spherocytosis, Type 5
stomatocytic anemia
Stomatocytosis Result
Increased red cell osmotic fragility
Increased intracellular sodium
D-2-hydroxyglutaric aciduria
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2
Combined D-2- and L-2-hydroxyglutaric aciduria
Ureterocele
Macrophage Colony Stimulating Factor Measurement
Interferon Gamma Measurement
Maculopapular eruption
Colorectal Neuroendocrine Tumor
MYOPATHY, MYOFIBRILLAR, 7
Sotos' syndrome
Myxopapillary ependymoma
Papillary ependymoma
Acute panmyelosis with myelofibrosis
Kabuki make-up syndrome
Cellular Ependymoma
PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY (finding)
lung sarcoma
HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO
Bulla of lung
Diabetic keratopathy
Enteritis due to specified virus
Uremia syndrome
Loose stool
Anemia, Hemolytic, Acquired
Anemia, Microangiopathic
Sarcoma, Experimental
Sarcoma, Jensen
Shock, Cardiogenic
Deficiency anemias
Lassitude
Anemia of prematurity
Microangiopathic hemolytic anemia
Anemia of chronic renal failure
Polyneuropathy, Critical Illness
Anemia of renal disease
Heterozygous hemoglobinopathy
Inguinal lymphadenopathy
Waldenstrom's disease
Polyneuropathy, Familial
Acquired Polyneuropathy
Bone marrow dysplasia
Familial polycythemia vera
Cerebellar hemangioblastoma
Treatment-Induced Anemia
Neonatal necrotizing enterocolitis
Anemia in chronic kidney disease
Endolymphatic sac tumor
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2 (finding)
Anemia in malignant neoplastic disease
Granulocytic hyperplasia
DEAFNESS, AUTOSOMAL RECESSIVE 102
Profound hearing impairment
Cystadenocarcinoma
Paget's Disease, Mammary
Other lesions of median nerve
Renal Pelvis Urothelial Carcinoma
Congenital duplication of intestine
Stage IIIA Breast Carcinoma
Esophageal neoplasm metastatic
Endometrial neoplasm malignant stage I
intestinal adenocarcinoma of the stomach
Adenosis
Inflammatory carcinoma
Epithelial tumor of ovary
Secondary malignant neoplasm of bone marrow
Chondrogenic Neoplasm
Ewing's sarcoma of bone
Secondary malignant neoplasm of axilla
colon (non-specific) lesion
Paraneoplastic Cerebellar Degeneration, Anti-Yo-Associated
Stage IV Esophageal Adenocarcinoma
Breast Apocrine Adenosis
Apocrine breast carcinoma
Tubular adenocarcinoma gastric
Still's disease with juvenile onset and/or adult onset
Prostate Basal Cell Carcinoma
Hormone receptor positive tumor
Paget's Disease of the Nipple
Glioma of Brain, Familial
Retroperitoneal Leiomyosarcoma
GLIOMA SUSCEPTIBILITY 1
Pleomorphic lobular carcinoma in situ
Cerebellar degeneration, subacute
Gastric Neuroendocrine Carcinoma
Ectomesenchymal Chondromyxoid Tumor
Childhood Alveolar Rhabdomyosarcoma
Secondary malignant neoplasm of omentum
Lethal Congenital Contracture Syndrome 2
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
Early myoclonic encephalopathy
Radiculopathy
AMYOTROPHIC LATERAL SCLEROSIS 19
Non-small cell lung cancer stage IIIA
Flexion contracture of toe
Bilateral microphthalmos
CEREBROOCULOFACIOSKELETAL SYNDROME 4
CAMFAK syndrome
Thyroid Hormone Metabolism, Abnormal
XFE Progeroid Syndrome
Pena Shokeir syndrome Type 2
Abnormality of immune system physiology
Abnormally small eyeball on both sides
Bilateral nanophthalmos
Sunburn
Xeroderma pigmentosum, group B
Cerebrooculofacioskeletal Syndrome 2
Photosensitive Trichothiodystrophy
Ichthyosis, Congenital, with Trichothiodystrophy
Numerous pigmented freckles
Lack of subcutaneous fatty tissue
Metachromatic leukodystrophy variant
Hardened artery wall
Periungual fibroma
Branchio-Oto-Renal Syndrome
Deafness, Autosomal Dominant 10
Cardiomyopathy, Dilated, 1J
Abnormal cardiac ventricular function
Xeroderma Pigmentosum B-Cockayne Syndrome
Abnormal CNS myelination
Tiger tail banding
TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE
Thumb aplasia
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
FANCONI ANEMIA, COMPLEMENTATION GROUP Q
Abnormality of the corpus callosum
Cerebrooculofacioskeletal Syndrome 3
Xeroderma Pigmentosum, Type G-Cockayne Syndrome
Gonadal hypoplasia
De Sanctis-Cacchione syndrome
Subcortical white matter calcifications
Cerebellar calcifications
Severe failure to thrive
Deep longitudinal plantar crease
Second metatarsal posteriorly placed
MACULAR DEGENERATION, AGE-RELATED, 5
Pigmentation anomalies of sun-exposed skin
Abnormal peripheral myelination
Foot crease
PREMATURE OVARIAN FAILURE 11
Bronchomalacia
Chiari malformation type II
Arnold-Chiari Malformation, Type III
Arnold-Chiari Malformation, Type IV
CRANIOSYNOSTOSIS 4
Complex craniosynostosis
Posterior plagiocephaly
Multiple suture craniosynostosis
CHITAYAT SYNDROME
Eye Diseases, Hereditary
Neoplastic Processes
Fundus Albipunctatus
Metastatic small cell carcinoma
Serum iron measurement
Henipavirus Infections
Sporadic Retinoblastoma
Retinoblastoma bilateral
Retinoblastoma unilateral
Dyspareunia (female)
Feminization
Gingivosis
Carcinoma in situ of prostate
Immature teratoma of ovary
Carcinoid tumor, malignant
MALE GENITAL ABNORMALITIES
Gender Dysphoria
Atypical carcinoid tumor
Benign cystic nephroma
Adenoid cystic breast carcinoma
Ovarian Transitional Cell Carcinoma
Papillary urothelial carcinoma
Sclerosing hemangioma
Total Hypotrichosis, Mari type
Marked delay in bone age
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3
ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE
Elevated tissue non-specific alkaline phosphatase
Lithiasis
De Quervain Disease
Impatience
DEAFNESS, AUTOSOMAL RECESSIVE 35
Autosomal dominant compelling helio ophthalmic outburst syndrome
Glutaric aciduria
Abnormality of the reproductive system
Hepatic periportal necrosis
Abnormality of the genital system
Glutaric Aciduria IIA
Glutaric Aciduria IIB
Glutaric Aciduria IIC
GLUTARIC ACIDEMIA IIA
GLUTARIC ACIDEMIA IIB
GLUTARIC ACIDEMIA IIC
Electron transfer flavoprotein-ubiquinone oxidoreductase defect
Glutaric acidemia
Defective dehydrogenation of isovaleryl CoA and butyryl CoA
Metabolic symptoms
COENZYME Q10 DEFICIENCY
GLUTARIC ACIDEMIA IIC, LATE-ONSET
TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
Alzheimer disease type 1
Disorder of ejaculation
Abnormal male sexual function
Male sexual dysfunction
Bacteroides Infections
Spindle Cell Oncocytoma of the Adenohypophysis
Mesoblastic Nephroma
Rhabdomyosarcoma with ganglionic differentiation
Mesoblastic nephroma, cellular
Macrocytosis, Familial
Somatotrophinoma, Familial
THROMBOCYTOPENIA 5
Non-intestinal type adenocarcinoma
Ellis-Van Creveld Syndrome
Majewski Syndrome
Premature tooth eruption
Alveolar ridge abnormality
Common atrium
Weyers acrofacial dysostosis
Epispadias, male (disorder)
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
Prominent antihelix
Conical incisor
Cone-shaped epiphyses of phalanges 2 to 5
Toenail dysplasia
Pointed incisor
Abnormality of the antihelix
Pointed front tooth
Peg shaped front tooth
Abnormality of alveolar processes of jaw
Blood urea nitrogen measurement
Magnesium measurement
Limited pronation/supination of forearm
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
Adenoma, Sweat Gland
Eccrine acrospiroma
Small cell osteosarcoma
Spongioblastoma
Medulloepithelioma
Benign neoplasm of sweat gland
Ependymoblastoma
Cerebral Primitive Neuroectodermal Tumor
Haemangioma of bone
Benign vascular neoplasm
Abnormality of the peritoneum
Clear cell odontogenic carcinoma
Madelung Deformity
Renal Failure, Progressive, with Hypertension
Metachondromatosis
Dysplasia epiphysealis hemimelica
Posttransfusion viral hepatitis
Secondary Chondrosarcoma
Rib exostoses
Multiple long-bone exostoses
EXOSTOSES, MULTIPLE, TYPE II
Peripheral nerve compression
Scapular exostoses
Protuberances at ends of long bones
Madelung-like forearm deformities
Abnormality of the humerus
Abnormality of femur morphology
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
Multiple osteochondroma of long bone
MPS III C
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
Congenital pectus excavatum
Malrotation of kidney
Townes syndrome
Persistent cloaca
Euthyroid Goiter
Renal cysts and diabetes syndrome
Fistula of branchial cleft
Abnormality of the middle ear ossicles
Abnormality of the renal collecting system
Papillorenal syndrome
Mondini malformation
Renal hypoplasia/aplasia
Morphological abnormality of the middle ear
Gustatory lacrimation
BRANCHIOOTIC SYNDROME 1
Branchiootorenal Syndrome 2
Dilatated internal auditory canal
Fara Chlupackova syndrome
Anterior chamber anomalies
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT
ANTERIOR SEGMENT ANOMALIES AND CATARACT
Enlarged cochlear aqueduct
Abnormality of the cerebrum
Renal steatosis
Incomplete partition of the cochlea type II
Weaver-Like Syndrome
Weaver syndrome
Thin nails
Upper Extremity Deformities, Congenital
Short fourth metatarsal
Dilation of lateral ventricles
Leukemia, Megakaryoblastic, of Down Syndrome
Adult Erythroleukemia
Deep-set nails
Flared humerus
Flared humeral metaphysis
Dysharmonic bone age
Abnormally low-pitched voice
Erythroleukemia
Abortion, Habitual
Embolism
Factor X Deficiency
Hemarthrosis
Inherited Factor II deficiency
Menorrhagia
Postphlebitic Syndrome
Prothrombin time increased
Partial thromboplastin time increased (finding)
Mesenteric Venous Thrombosis
Hereditary factor II deficiency disease
Acute type A viral hepatitis
Atherosclerotic occlusive disease
Thrombosis of internal jugular vein
Thrombosis of subclavian vein
Petrous Sinus Thrombophlebitis
Intracranial Sinus Thrombophlebitis
Petrous Sinus Thrombosis
Central Nervous System Vascular Malformations
Blood Coagulation Disorders, Inherited
Upper Extremity Deep Vein Thrombosis, Primary
prothrombin gene mutation
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Mesenteric vascular insufficiency
Infarction of spinal cord
Hereditary hyperhomocysteinemia
Factor II deficiency
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2
Acute Mesenteric Arterial Embolus
Occlusive Mesenteric Arterial Ischemia
Nonocclusive Mesenteric Ischemia
Acute Mesenteric Arterial Thrombosis
Renal Allograft Thrombosis
Reduced prothrombin activity
Leri-Weill dyschondrosteosis
Cholestasis, chronic
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Sebaceous Gland Diseases
Rhinosinusitis
Adnexal Diseases
Factor VII Deficiency
Hereditary Factor XI Deficiency
Rocky Mountain Spotted Fever
stage, colon cancer
Hypodysfibrinogenemia
Skin hemorrhages
Familial Thrombotic Thrombocytopenic Purpura
Central Retinal Artery Occlusion
Hereditary Factor V Deficiency
Activated Partial Thromboplastin Time measurement
Prolonged whole-blood clotting time
Hemorrhagic colitis
Colitis, Ischemic
Sagittal Sinus Thrombosis
Central retinal vein occlusion - juvenile
Heparin cofactor II deficiency (disorder)
Atrial septal aneurysm
Thrombosis of inferior vena cava
Postoperative deep vein thrombosis
Septic Phlebitis, Sagittal Sinus
Sagittal Sinus Thrombophlebitis
Aortic thrombosis
Neonatal stroke
Persistent foramen ovale
Thrombosis of retinal vein
Bleeding Disorder, East Texas Type
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
Acquired thrombophilia
Heterozygous prothrombin G20210A mutation
Stem Cell Factor Measurement
Familial antiphospholipid syndrome
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1
Acute deep venous thrombosis
factor V Hong Kong phenotype
Factor V deficiency
Hereditary Factor XIII Deficiency
Muscle hematoma
Chronic arthropathy
Hemophilic arthropathy
Hereditary factor VII deficiency disease
Traumatic intracranial hemorrhage
Occlusive thrombus
Hematoma, Subdural, Acute
Intracranial Hematoma, Traumatic
Posterior Fossa Hemorrhage
Acute cerebrovascular disease
Shoulder arthritis
Absent radius
Factor VII measurement
Congenital Bleeding Disorder
Prolonged bleeding after surgery
Reduced factor VII activity
Factor 8 deficiency, acquired
Hereditary factor VIII deficiency disease with inhibitor
Persistent bleeding after trauma
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
Autosomal Hemophilia A
Reduced factor VIII activity
Mandibuloacral dysostosis
Hereditary factor IX deficiency disease without inhibitor
Thrombophilia, X-Linked, Due To Factor Ix Defect
DEEP VENOUS THROMBOSIS, PROTECTION AGAINST
Reduced factor IX activity
Abnormality of the intrinsic pathway
Deficiency of factor X [Stuart-Prower]
Reduced factor X activity
Histidinemia
High molecular weight kininogen deficiency
Prolonged bleeding after dental extraction
Reduced factor XI activity
Hereditary Angioedema Type III
Hereditary angioedema with normal C1 esterase inhibitor activity
reported urticaria (physical finding)
Episodic upper airway obstruction
Dysfibrinogenemia, Congenital
Factor Xiii, A Subunit, Deficiency Of
Factor XIII, B Subunit, Deficiency Of
Abnormal umbilical stump bleeding
Rectal sensation
Colonic Inertia
POLYSUBSTANCE ABUSE, SUSCEPTIBILITY TO
Decreased adipose tissue
Myocardial Disorder
Cystic Adenomatoid Malformation of Lung, Congenital
Reticulocytopenia
Radial aplasia
absence of radius and ulna
Estren-Dameshek Variant of Fanconi Anemia
Estren-Dameshek Variant of Fanconi Pancytopenia
Duplicated collecting system
Complete duplication of thumb phalanx
Prolonged G2 phase of cell cycle
Deficient excision of UV-induced pyrimidine dimers in DNA
Anemic pallor
Multiple self-healing squamous epithelioma
Congenital facial asymmetry
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Paralytic Ileus
Hereditary hypertyrosinemia
Tyros
