FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.21 | FHIR Version n/a User: [n/a]

11164009: Autosomal dominant hereditary disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder

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

Descriptions:

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
Familial porencephaly (disorder)	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 (disorder)	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 hematologic 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
SIX homeobox 2-related frontonasal dysplasia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Macrothrombocytopenia, lymphedema, 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 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Maturity onset diabetes of the young, type 2 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Maturity onset diabetes of the young, type 1 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Maturity-onset diabetes of the young, type 3 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Maturity-onset diabetes of the young, type 5 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Maturity-onset diabetes of the young, type 8 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Maturity-onset diabetes of the young, type 10 (disorder)	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
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Myotonic dystrophy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Colobomatous macrophthalmia with microcornea syndrome (disorder)	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
HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease (disorder)	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 (disorder)	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
Integral membrane protein 2B related amyloidosis (disorder)	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

Start Previous Page 10 of 10

This concept is not in any reference sets

Back to Start

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
2598921000052112	autosomalt dominant ärftlig sjukdom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)