124686007: Deficiency of mutase (disorder)

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

204946012 Deficiency of mutase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728414013 Deficiency of mutase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

204946012 Deficiency of mutase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204946012 Deficiency of mutase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728414013 Deficiency of mutase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

728414013 Deficiency of mutase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4777121000241112 déficit en mutase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4777121000241112 déficit en mutase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of mutase (disorder)	Is a	Specific enzyme deficiency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of mutase (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of mutase (disorder)	Is a	Deficiency of isomerase	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deficiency of methylmalonyl-coenzyme A mutase (disorder)	Is a	True	Deficiency of mutase (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets