52452006: Fumarylacetoacetase deficiency, chronic type (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Hereditary hypertyrosinemia (disorder)\Fumarylacetoacetase deficiency, chronic type

\Metabolic disease\Hereditary metabolic disease\Hereditary hypertyrosinemia (disorder)\Fumarylacetoacetase deficiency, chronic type
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hypertyrosinaemia\Hereditary hypertyrosinemia (disorder)\Fumarylacetoacetase deficiency, chronic type
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism (disorder)\Tyrosinosis\Fumarylacetoacetase deficiency, chronic type
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism (disorder)\Hypertyrosinaemia\Hereditary hypertyrosinemia (disorder)\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\Aminoacidaemia\Hypertyrosinaemia\Hereditary hypertyrosinemia (disorder)\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fumarylacetoacetase deficiency, chronic type	Is a	Fumarylacetoacetase deficiency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fumarylacetoacetase deficiency, chronic type	Is a	Tyrosinosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Fumarylacetoacetase deficiency, chronic type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fumarylacetoacetase deficiency, chronic type	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fumarylacetoacetase deficiency, chronic type	Is a	Deficiency of fumarylacetoacetase	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Fumarylacetoacetase deficiency, chronic type	Is a	Hereditary hypertyrosinemia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
87281014	Fumarylacetoacetase deficiency, chronic type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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	Only initial character 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	Only initial character 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
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