52452006: chronische deficiëntie van fumarylacetoacetase (aandoening)

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:

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

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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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
87282019	Hereditary hypertyrosinemia, type I	en	Synonym (core metadata concept)	Inactive	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	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
219261000146114	tyrosinemie type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
219271000146115	chronische deficiëntie van fumarylacetoacetase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
219281000146118	chronische deficiëntie van fumarylacetoacetase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
219291000146116	hepatorenale tyrosinemie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)