124711003: deficiëntie van argininosuccinaatsynthase (aandoening)

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

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

205025010 Deficiency of citrulline-aspartate ligase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

205026011 Deficiency of argininosuccinate synthase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728443017 Deficiency of argininosuccinate synthase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5308639019 Argininosuccinate synthase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

11668951000146112 deficiëntie van argininosuccinaatsynthase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11668961000146110 deficiëntie van citrullineaspartaatligase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11668971000146116 deficiëntie van argininosuccinaatsynthase nl Synonym (core metadata concept) 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 argininosuccinate synthase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of argininosuccinate synthase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Citrullinemia type I (disorder)	Due to	True	Deficiency of argininosuccinate synthase	Inferred relationship	Some	1
Late-onset citrullinemia type I	Due to	True	Deficiency of argininosuccinate synthase	Inferred relationship	Some	1

This concept is not in any reference sets