124295007: deficiëntie van isomeervormend glutamine-fructose-6-fosfaataminotransferase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerizing)

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

203997014 Deficiency of hexosephosphate aminotransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203998016 Deficiency of glucosamine-6-phosphate isomerase (glutamine-forming) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203999012 Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerizing) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473220017 Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerising) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727895019 Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerizing) (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

9101241000146116 deficiëntie van isomeervormend glutamine-fructose-6-fosfaataminotransferase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9101251000146118 tekort aan hexosefosfaataminotransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9101261000146115 deficiëntie van isomeervormend glutamine-fructose-6-fosfaataminotransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9101271000146114 deficiëntie van isomeervormend GFAT 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 glutamine-fructose-6-phosphate aminotransferase (isomerizing)	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerizing)	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