52452006: Fumarylacetoacetase deficiency, chronic type (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Hereditary hypertyrosinemia\Fumarylacetoacetase deficiency, chronic type

\Metabolic disease\Hereditary metabolic disease\Hereditary hypertyrosinemia\Fumarylacetoacetase deficiency, chronic type
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hypertyrosinemia\Hereditary hypertyrosinemia\Fumarylacetoacetase deficiency, chronic type
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism\Tyrosinosis\Fumarylacetoacetase deficiency, chronic type
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism\Hypertyrosinemia\Hereditary hypertyrosinemia\Fumarylacetoacetase deficiency, chronic type
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of fumarylacetoacetase\Fumarylacetoacetase deficiency, chronic type
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hypertyrosinemia\Hereditary hypertyrosinemia\Fumarylacetoacetase deficiency, chronic type

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

87281014 Fumarylacetoacetase deficiency, chronic type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

87283012 Chronic tyrosinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

87284018 Tyrosinemia with hepatorenal dysfunction en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

496320017 Tyrosinaemia with hepatorenal dysfunction en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

790463017 Fumarylacetoacetase deficiency, chronic type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4561231000241116 déficit en fumarylacétoacétase, forme chronique 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
Fumarylacetoacetase deficiency, chronic type	Is a	Fumarylacetoacetase deficiency	false	Inferred relationship	Some
Fumarylacetoacetase deficiency, chronic type	Is a	Tyrosinosis	true	Inferred relationship	Some
Fumarylacetoacetase deficiency, chronic type	Occurrence	Congenital	false	Inferred relationship	Some
Fumarylacetoacetase deficiency, chronic type	Finding site	Body system structure	false	Inferred relationship	Some
Fumarylacetoacetase deficiency, chronic type	Is a	Deficiency of fumarylacetoacetase	true	Inferred relationship	Some
Fumarylacetoacetase deficiency, chronic type	Is a	Hereditary hypertyrosinemia	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

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Reference Sets

Description inactivation indicator reference set