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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
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
Autosomal dominant Charcot-Marie-Tooth disease type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant cerebellar ataxia type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Alzheimer disease due to mutation of amyloid precursor protein Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Mutilating keratoderma Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Palmoplantar hyperkeratosis sclerodactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Overhydrated hereditary stomatocytosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Southeast Asian ovalocytosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Dehydrated hereditary stomatocytosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial pseudohyperkalaemia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary leiomyomatosis and renal cell carcinoma Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial calcium pyrophosphate dihydrate crystal deposition disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Symphalangism Cushing type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial porencephaly Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Rieger syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Diaphyseal dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Childhood-onset benign chorea with striatal involvement Is a True Autosomal dominant hereditary disorder Inferred relationship Some
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
RERE-related neurodevelopmental syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
DDX41-related haematologic malignancy predisposition syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
SIX2-related frontonasal dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary thrombocytopenia with early-onset myelofibrosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity onset diabetes of the young, type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity onset diabetes of the young, type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity-onset diabetes of the young, type 3 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity-onset diabetes of the young, type 5 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity-onset diabetes of the young, type 8 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity-onset diabetes of the young, type 10 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity-onset diabetes of the young, type 11 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
PMP22-RAI1 contiguous gene duplication syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Pfeiffer's disease Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Pontine autosomal dominant microangiopathy with leucoencephalopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Myotonic dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Colobomatous macrophthalmia with microcornea syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial patent arterial duct Is a True Autosomal dominant hereditary disorder Inferred relationship Some
BENTA disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
HTRA1-related autosomal dominant cerebral small vessel disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Gabriele-de Vries syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary paediatric Behçet-like disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Witteveen Kolk syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
ITM2B-related amyloidosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant thrombocytopenia with platelet secretion defect Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Martinique crinkled retinal pigment epitheliopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary antithrombin III deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Melorheostosis with osteopoikilosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Childhood-onset nemaline myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
STAT3-related early-onset multisystem autoimmune disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial cavitary optic disc anomaly Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant amyotrophic lateral sclerosis type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Intellectual disability, expressive aphasia, facial dysmorphism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Thrombomodulin-related bleeding disorder Is a True Autosomal dominant hereditary disorder Inferred relationship Some
PPARG-related familial partial lipodystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
AKT2-related familial partial lipodystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant central core disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Amyotrophic lateral sclerosis type 3 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
MIRAGE syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Amyotrophic lateral sclerosis type 8 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Amyotrophic lateral sclerosis type 9 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial congenital palsy of trochlear nerve Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Neuhauser Eichner Opitz syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Neurofibromatosis type 6 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Amyotrophic lateral sclerosis type 10 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant congenital fibre-type disproportion myopathy due to TPM3 mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Distal arthrogryposis type 10 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 41 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 42 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 43 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant deafness with onychodystrophy syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Neurogenic scapuloperoneal syndrome Kaeser type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Polymicrogyria due to TUBB2B mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Progressive myoclonic epilepsy type 7 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Long QT syndrome type 6 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital fibre-type disproportion myopathy due to MYH7 mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperostosis cranialis interna Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Progressive scapulohumeroperoneal distal myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
LAMA5-related multisystemic syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

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