FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  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
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
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

Start Previous Page 3 of 11 Next End

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start