124119008: deficiëntie van 3-hydroxyisobutyraatdehydrogenase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of 3-hydroxyisobutyrate dehydrogenase

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

203522017 Deficiency of 3-hydroxyisobutyrate dehydrogenase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727604014 Deficiency of 3-hydroxyisobutyrate dehydrogenase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5315812016 HIBADH-gene related deficiency of 3-hydroxyisobutyrate dehydrogenase en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6834701000146115 deficiëntie van 3-hydroxyisobutyraatdehydrogenase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9746021000146113 deficiëntie van 3-hydroxyisobutyraatdehydrogenase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of 3-hydroxyisobutyrate dehydrogenase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of 3-hydroxyisobutyrate dehydrogenase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets