124677002: deficiëntie van fosfoacetylglucosaminemutase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of phosphoacetylglucosamine mutase (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

204930016 Deficiency of acetylglucosamine phosphomutase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204931017 Deficiency of phosphoacetylglucosamine mutase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728404016 Deficiency of phosphoacetylglucosamine mutase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6887101000146117 deficiëntie van fosfoacetylglucosaminemutase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9127491000146112 tekort aan fosfoglucomutase 3 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9127501000146119 PGM3-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9127511000146117 deficiëntie van N-acetylglucosaminefosfaatmutase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11215521000146118 deficiëntie van fosfoacetylglucosaminemutase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11215531000146116 tekort aan acetylglucosaminefosfomutase 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 phosphoacetylglucosamine mutase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of phosphoacetylglucosamine mutase (disorder)	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