27373000: Fumarylacetoacetase deficiency, acute type (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

45767011 Fumarylacetoacetase deficiency, acute type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

45768018 Subacute tyrosinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

757932017 Fumarylacetoacetase deficiency, acute type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

11480991000172112 déficit en fumarylacétoacétase, forme aigüe fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7254391000172112 acute vorm van deficiëntie van fumarylacetoacetaathydrolase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7254401000172114 acute vorm van deficiëntie van fumarylacetoacetase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fumarylacetoacetase deficiency, acute type	Is a	Acute metabolic disorder	false	Inferred relationship	Some
Fumarylacetoacetase deficiency, acute type	Is a	Tyrosinosis	false	Inferred relationship	Some
Fumarylacetoacetase deficiency, acute type	Is a	Fumarylacetoacetase deficiency	false	Inferred relationship	Some
Fumarylacetoacetase deficiency, acute type	Finding site	Body system structure	false	Inferred relationship	Some
Fumarylacetoacetase deficiency, acute type	Course	Acute	false	Inferred relationship	Some
Fumarylacetoacetase deficiency, acute type	Occurrence	Congenital	false	Inferred relationship	Some
Fumarylacetoacetase deficiency, acute type	Is a	Deficiency of fumarylacetoacetase	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets