124267007: 1,4-alfa-glucaan-'branching enzyme'-deficiëntie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of 1,4-alpha-glucan branching enzyme

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

203891014 Deficiency of branching enzyme en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203892019 Deficiency of amylo-(1,4,6)-transglycosylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203893012 Deficiency of 1,4-alpha-glucan branching enzyme en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727834018 Deficiency of 1,4-alpha-glucan branching enzyme (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6868241000146112 1,4-alfa-glucaan-vertakkingsenzymdeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8277021000146117 1,4-alfa-glucaan-'branching enzyme'-deficiëntie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8277031000146115 '1,4-alpha-glucan branching enzyme'-deficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8277041000146111 1,4-alfa-glucaan-'branching enzyme'-deficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8277051000146114 tekort aan 1,4-alfa-glucaan-'branching enzyme' nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8277061000146112 deficiëntie van 1,4-alfa-glucaan-'branching enzyme' 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 1,4-alpha-glucan branching enzyme	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of 1,4-alpha-glucan branching enzyme	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