124670000: deficiëntie van glucosamine-6-fosfaatisomerase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of glucosamine-6-phosphate isomerase

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

204915013 Deficiency of glucosamine-6-phosphate isomerase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728395012 Deficiency of glucosamine-6-phosphate isomerase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6822311000146110 glucosamine-6-fosfaatisomerasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6822331000146115 deficiëntie van glucosamine-6-fosfaatisomerase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11360871000146117 deficiëntie van glucosamine-6-fosfaatisomerase (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 glucosamine-6-phosphate isomerase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of glucosamine-6-phosphate isomerase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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Characteristic

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This concept is not in any reference sets