124261008: deficiëntie van dihydrolipoyllysineresidu-acetyltransferase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of dihydrolipoamide acetyltransferase

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

203877015 Deficiency of thioltransacetylase A en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

203878013 Deficiency of lipoate acetyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203879017 Deficiency of dihydrolipoamide acetyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727825011 Deficiency of dihydrolipoamide acetyltransferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6844511000146111 deficiëntie van dihydrolipoamide-acetyltransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11272021000146114 deficiëntie van dihydrolipoyllysineresidu-acetyltransferase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11272031000146111 deficiëntie van lipoaatacetyltransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11272041000146115 deficiëntie van dihydrolipoyllysineresidu-acetyltransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11272051000146117 deficiëntie van thioltransacetylase A nl Synonym (core metadata concept) Active Only initial character 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 dihydrolipoamide acetyltransferase	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of dihydrolipoamide acetyltransferase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets