124254009: deficiëntie van glucosaminefosfaat-N-acetyltransferase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of glucosamine-phosphate 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

203858017 Deficiency of phosphoglucosamine transacetylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203859013 Deficiency of phosphoglucosamine acetylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203860015 Deficiency of glucosamine-phosphate acetyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727810011 Deficiency of glucosamine-phosphate acetyltransferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6822361000146112 deficiëntie van glucosaminefosfaatacetyltransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11360881000146115 deficiëntie van glucosaminefosfaat-N-acetyltransferase (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11360891000146118 deficiëntie van glucosaminefosfaat-N-acetyltransferase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11669671000146119 deficiëntie van fosfoglucosamineacetylase nl Synonym (core metadata concept) 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 glucosamine-phosphate acetyltransferase	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of glucosamine-phosphate acetyltransferase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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Active

Source

Characteristic

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This concept is not in any reference sets