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:

Id Description Lang Type Status Case? Module

19337016 Dominant hereditary disorder, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
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

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
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Isolated familial medullary thyroid carcinoma	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Genetic epilepsy with febrile seizures plus	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Distal myotilinopathy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
AXIN2-related attenuated familial adenomatous polyposis (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
3q26q28 deletion syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant predisposition to severe viral infection due to toll like receptor 3 deficiency (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary retinoblastoma (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant predisposition to severe viral infection due to TRAF3 deficiency	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Recurrent herpes simplex virus 2 meningitis due to autosomal dominant autophagy related 4A cysteine peptidase deficiency (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant thrombocytopenia due to ETV6 gene mutation	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Protein kinase adenosine monophosphate-activated non catalytic subunit gamma 2 syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 4	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Adult neuronal ceroid lipofuscinosis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some

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This concept is not in any reference sets