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

203836019 Deficiency of carbamylaspartotranskinase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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 Only initial character 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 Only initial character 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

4770981000241111 déficit en aspartate carbamoyltransferase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4770981000241111 déficit en aspartate carbamoyltransferase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of aspartate carbamoyltransferase	Is a	Specific enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of aspartate carbamoyltransferase	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets