FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

11164009: Autosomal dominant hereditary disorder (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

1150 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
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant familial isolated hypoparathyroidism Is a True Autosomal dominant hereditary disorder Inferred relationship Some
QRICH1-related intellectual disability, chondrodysplasia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Keppen Lubinsky syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial chilblain lupus erythematosus Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Pierpont syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary malignant neuroendocrine neoplasm of small intestine Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant mitochondrial myopathy with exercise intolerance Is a True Autosomal dominant hereditary disorder Inferred relationship Some
KRT1-related diffuse nonepidermolytic keratoderma Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
SYNGAP1-related developmental and epileptic encephalopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Interstitial lung disease due to surfactant protein C deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autoimmune interstitial lung disease, arthritis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial multiple discoid fibroma Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Stanescu type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
8q24.3 microdeletion syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Duane retraction syndrome with congenital deafness Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
FTH1-related iron overload Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial chondromalacia of patella Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Primary failure of tooth eruption Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Isolated osteopoikilosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Benign familial neonatal-infantile seizures Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant generalised dystrophic epidermolysis bullosa Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Osteofibrous dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
14q32 duplication syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
MIRAGE syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Prothrombin G20210A mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome, procollagen proteinase deficient Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Otodental syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Benign familial infantile epilepsy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Sorsby's fundus dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial hyperaldosteronism type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary distal onycholysis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Diaphyseal medullary stenosis with bone malignancy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
PUM1-associated developmental disability, ataxia, seizure syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Haemolytic anaemia due to erythrocyte adenosine deaminase overproduction Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Isolated focal non-epidermolytic palmoplantar keratoderma Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial gigantiform cementoma of jaw Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Birt Hogg Dubé syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Pseudo von Willebrand disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant late onset basal ganglia degeneration Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant idiopathic familial dystonia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant sensory neuropathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant retinitis pigmentosa Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - local Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - rough Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant hypophosphataemic bone disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant muscular dystrophy not predominantly limb girdle Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial chronic mucocutaneous candidiasis - dominant type Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant ichthyosis vulgaris Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant lamellar ichthyosis Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant cystoid macular oedema Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Acrodysostosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Acrocephalosyndactyly type V Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary stomatocytosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant mutilating keratoderma Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Familial amyloid nephropathy with urticaria AND deafness Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Marfan's syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Dominant hereditary optic atrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant variant form of albumin Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary gastrogenic lactose intolerance Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Pseudocholinesterase deficiency Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Maturity onset diabetes mellitus in young Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Reis-Bucklers' corneal dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Polycystic kidney disease, adult type Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Melnick-Fraser syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Alpha-1 antitrypsin deficiency Is a False Autosomal dominant hereditary disorder Inferred relationship Some
White sponge naevus Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Whyte Hemingway carpal tarsal phalangeal osteolyses Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Freeman-Sheldon syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary haemochromatosis Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Hyaline dystrophy of Bruch's membrane Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial amyloid polyneuropathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary oculoleptomeningeal amyloid angiopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
HNSHA due to triosephosphate isomerase deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary cerebral amyloid angiopathy, Icelandic type Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Cherubism Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Peutz-Jeghers syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary cerebral amyloid angiopathy, Dutch type Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Congenital myotonia, autosomal dominant form Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary elliptocytosis due to deficiency of protein 4.1 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary nephrogenic diabetes insipidus Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Franceschetti-Klein syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant analbuminaemia Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Multiple endocrine neoplasia, type 3 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Noonan's syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant excess of transthyretin Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Multiple congenital exostosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary pancreatitis Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Gorlin syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial multiple polyposis syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some

Start Previous Page 4 of 11 Next End

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start