410056006: Tyrosinemia type I (disorder)

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)

\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:

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

923251000172112 déficit en FAH (fumarylacetoacetate hydrolase) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

976931000172117 tyrosinémie type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

879861000172119 FAH (fumarylacetoacetaat-hydrolase)-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

991171000172115 tyrosinemie type 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

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

Inbound Relationships

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Characteristic

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This concept is not in any reference sets