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410056006: tyrosinemie type 1 (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Hereditary hypertyrosinemia\Tyrosinemia type I (disorder)

\Hereditary cancer-predisposing syndrome\Tyrosinemia type I (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tyrosinemia type I (disorder)

\Metabolic disease\Hereditary metabolic disease\Hereditary hypertyrosinemia\Tyrosinemia type I (disorder)
\Metabolic disease\Clinical manifestation of enzyme deficiency (disorder)\Tyrosinemia type I (disorder)
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hypertyrosinemia\Hereditary hypertyrosinemia\Tyrosinemia type I (disorder)
\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\Tyrosinemia type I (disorder)
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hypertyrosinemia\Hereditary hypertyrosinemia\Tyrosinemia type I (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Tyrosinemia type I (disorder)	Is a	Clinical manifestation of enzyme deficiency (disorder)	true	Inferred relationship	Some
Tyrosinemia type I (disorder)	Is a	Hereditary hypertyrosinemia	true	Inferred relationship	Some
Tyrosinemia type I (disorder)	Due to	Deficiency of fumarylacetoacetase	true	Inferred relationship	Some	1
Tyrosinemia type I (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Tyrosinemia type I (disorder)	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Tyrosinemia type I (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Tyrosinemia type I (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

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
2465507011	Tyrosinemia type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2469188016	Tyrosinaemia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2469662018	Tyrosinemia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5310038017	Hepatorenal tyrosinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5310039013	Tyrosinaemia type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5310040010	FAH-gene related tyrosinemia type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5310041014	Tyrosinemia type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5310042019	FAH-gene related tyrosinaemia type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5310043012	Hepatorenal tyrosinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
390521000146116	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)
390531000146119	tyrosinemie type 1 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)