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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
19337016 Dominant hereditary disorder, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
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

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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