124723009: deficiëntie van zure aminozuurligase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of acid-aminoacid ligase (disorder)

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

205056019 Deficiency of peptide synthase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

205057011 Deficiency of acid-aminoacid ligase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728456012 Deficiency of acid-aminoacid ligase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6911231000146119 deficiëntie van zure aminozuurligase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8198441000146110 deficiëntie van peptidesynthase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12760931000146110 deficiëntie van zure aminozuurligase (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 acid-aminoacid ligase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of acid-aminoacid ligase (disorder)	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets