124293000: deficiëntie van asparagineoxozuuraminotransferase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of asparagine-oxo-acid aminotransferase

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

203989019 Deficiency of asparagine-oxo-acid aminotransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727893014 Deficiency of asparagine-oxo-acid aminotransferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

8277451000146118 asparagineoxozuuraminotransferasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8277461000146115 tekort aan asparagineoxozuuraminotransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8277471000146114 deficiëntie van asparagineoxozuuraminotransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8305661000146114 deficiëntie van asparagineoxozuuraminotransferase (aandoening) nl Fully specified name 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 asparagine-oxo-acid aminotransferase	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of asparagine-oxo-acid aminotransferase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set