124248008: Deficiency of aspartate carbamoyltransferase (disorder)

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

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

203836019 Deficiency of carbamylaspartotranskinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
203837011 Deficiency of aspartate transcarbamylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
203838018 Deficiency of aspartate carbamoyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
727797016 Deficiency of aspartate carbamoyltransferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
937441000052112 brist på aspartatkarbamoyltransferas sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of aspartate carbamoyltransferase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of aspartate carbamoyltransferase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

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Characteristic

Refinability

Group

Reference Sets