124536006: Deficiency of fumarylacetoacetase (disorder)

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

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

204637016 Deficiency of beta-diketonase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204638014 Deficiency of fumarylacetoacetase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728241017 Deficiency of fumarylacetoacetase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

204637016 Deficiency of beta-diketonase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204637016 Deficiency of beta-diketonase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204638014 Deficiency of fumarylacetoacetase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204638014 Deficiency of fumarylacetoacetase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728241017 Deficiency of fumarylacetoacetase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

728241017 Deficiency of fumarylacetoacetase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4775201000241117 déficit en fumarylacetoacetase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4775201000241117 déficit en fumarylacetoacetase 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 fumarylacetoacetase	Is a	Specific enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of fumarylacetoacetase	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fumarylacetoacetase deficiency, acute type (disorder)	Is a	True	Deficiency of fumarylacetoacetase	Inferred relationship	Existential restriction modifier (core metadata concept)
Fumarylacetoacetase deficiency, chronic type	Is a	True	Deficiency of fumarylacetoacetase	Inferred relationship	Existential restriction modifier (core metadata concept)
Tyrosinaemia type I	Due to	True	Deficiency of fumarylacetoacetase	Inferred relationship	Existential restriction modifier (core metadata concept)	1

This concept is not in any reference sets