FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

11164009: Autosomal dominant hereditary disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
195344010 Autosomal dominant hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
632967019 Autosomal dominant hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2618831016 AD - Autosomal dominant en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1208 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant hereditary disorder Is a Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Transthyretin related familial amyloid cardiomyopathy (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Familial osteochondritis dissecans (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial spontaneous pneumothorax (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ulna metaphyseal dysplasia syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ameloonychohypohidrotic syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial progressive hyperpigmentation (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Multiple epiphyseal dysplasia type 1 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Multiple epiphyseal dysplasia type 5 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Deafness craniofacial syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Proximal myotonic myopathy (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ectodermal dysplasia with natal teeth Turnpenny type (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Generalized epilepsy and paroxysmal dyskinesia syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary motor and sensory neuropathy Okinawa type (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Polydactyly of triphalangeal thumb (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly type A1 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly type A4 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly type A6 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 28 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 29 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 31 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial advanced sleep phase syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial isolated arrhythmogenic right ventricular dysplasia (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease, type I (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Epithelial recurrent erosion dystrophy of cornea (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Turcot syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Mullerian duct and limb anomalies syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Short stature with valvular heart disease and characteristic facies syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant pterygium of conjunctiva (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant spondylocostal dysostosis (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Steinfeld syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant late onset Parkinson disease (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Dominant beta-thalassemia (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Multiple osteochondroma of long bone (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Roch Leri mesosomatous lipomatosis (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary keratoacanthoma (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary pheochromocytoma and paraganglioma (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary diffuse carcinoma of stomach (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Proteus like syndrome (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Deafness with malformation of ear and facial palsy syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperinsulinism due to deficiency of glucokinase (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Punctate palmoplantar keratoderma type 1 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial digital arthropathy and brachydactyly syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Benign adult familial myoclonic epilepsy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary hypotrichosis simplex of scalp (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant brachyolmia (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Syndromic hypoplasia of orbital border (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Koolen De Vries syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Gingival fibromatosis and hypertrichosis syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Melanoma and neural system tumour syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Distal arthrogryposis type 1 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
3q29 microdeletion syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Bilateral multiple fibroadenoma of breast (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant centronuclear myopathy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary persistence of alpha-fetoprotein (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Behavioral variant of frontotemporal dementia (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary cavernous hemangioma of brain (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Enlarged parietal foramina (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary geniospasm (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperinsulinism and hyperammonemia syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Piebaldism (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Peripheral resistance to thyroid hormone (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary breast and ovarian cancer syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant popliteal pterygium syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2D (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2E (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2J (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Grayson Wilbrandt dystrophy of cornea (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
White platelet syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Bethlem myopathy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ablepharon macrostomia syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Deficiency of phosphoserine aminotransferase (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
HNPCC - hereditary nonpolyposis colon cancer Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial Creutzfeldt-Jakob (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Annular epidermolytic ichthyosis (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Mammary digital nail syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Isolated cryptophthalmos (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Lattice corneal dystrophy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 15/16 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Lissencephaly due to tubulin alpha 1A mutation (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some

Start Previous Page 3 of 11 Next End

This concept is not in any reference sets

Back to Start