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271847005: hereditaire tyrosinemie (aandoening)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Hereditary hypertyrosinemia

\Metabolic disease\Hereditary metabolic disease\Hereditary hypertyrosinemia
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hypertyrosinemia\Hereditary hypertyrosinemia
\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
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hypertyrosinemia\Hereditary hypertyrosinemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary hypertyrosinemia	Is a	Hypertyrosinemia	true	Inferred relationship	Some
Hereditary hypertyrosinemia	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary hypertyrosinemia	Occurrence	Congenital	false	Inferred relationship	Some
Hereditary hypertyrosinemia	Is a	Hereditary disease	false	Inferred relationship	Some
Hereditary hypertyrosinemia	Is a	Hereditary metabolic disease	true	Inferred relationship	Some
Hereditary hypertyrosinemia	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fumarylacetoacetase deficiency	Is a	False	Hereditary hypertyrosinemia	Inferred relationship	Some
Tyrosinemia type I (disorder)	Is a	True	Hereditary hypertyrosinemia	Inferred relationship	Some
Fumarylacetoacetase deficiency, chronic type	Is a	True	Hereditary hypertyrosinemia	Inferred relationship	Some
Hypertyrosinemia, Richner-Hanhart type (disorder)	Is a	True	Hereditary hypertyrosinemia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
406832013	Tyrosinaemia-tyrosiluria hereditary syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
406833015	Hereditary hypertyrosinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
406834014	Hereditary hypertyrosinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
406835010	Tyrosinemia-tyrosiluria hereditary syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
664301017	Hereditary hypertyrosinemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4554512018	Hereditary tyrosinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4554513011	Hereditary tyrosinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
220831000146117	erfelijke tyrosinemie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
220841000146113	erfelijke tyrosinemie (aandoening)	nl	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
247861000146111	erfelijke hypertyrosinemie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8617911000146118	hereditaire tyrosinemie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8672171000146115	hereditaire tyrosinemie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)