124254009: Deficiency of glucosamine-phosphate acetyltransferase (disorder)

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

5708711000172111 déficit en glucosamine-phosphate acétyltransférase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4869611000172118 deficiëntie van fosfoglucosamineacetylase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4869621000172111 deficiëntie van glucosaminefosfaatacetyltransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4869631000172114 deficiëntie van glucosaminefosfaat-N-acetyltransferase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian 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

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Characteristic

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This concept is not in any reference sets