124700006: deficiëntie van guanosinedifosfaatvormend succinaat-co-enzym A-ligase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of succinate-CoA ligase\Deficiency of succinate-CoA ligase (GDP-forming)

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

204994011 Deficiency of succinyl-CoA synthetase (GDP-forming) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204995012 Deficiency of succinate-CoA ligase (GDP-forming) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2970882017 Deficiency of succinate- coenzyme A ligase (guanosine diphosphate-forming) (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971809016 Deficiency of succinate- coenzyme A ligase (guanosine diphosphate-forming) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

11364541000146117 deficiëntie van GDP-vormend succinaat-CoA-ligase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11364551000146119 deficiëntie van guanosinedifosfaatvormend succinaat-co-enzym A-ligase (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11364561000146116 deficiëntie van guanosinedifosfaatvormend succinaat-co-enzym A-ligase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11364571000146110 deficiëntie van GDP-vormend succinyl-CoA-synthetase nl Synonym (core metadata concept) Active Only initial character 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 succinate-CoA ligase (GDP-forming)	Is a	Specific enzyme deficiency	false	Inferred relationship	Some
Deficiency of succinate-CoA ligase (GDP-forming)	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of succinate-CoA ligase (GDP-forming)	Is a	Deficiency of succinate-CoA ligase	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets