410056006: Tyrosinemia type I (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Hereditary hypertyrosinemia\Tyrosinemia type I

\Hereditary cancer-predisposing syndrome\Tyrosinemia type I

\Metabolic disease\Hereditary metabolic disease\Hereditary hypertyrosinemia\Tyrosinemia type I
\Metabolic disease\Clinical manifestation of enzyme deficiency\Tyrosinemia type I
\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
\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
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hypertyrosinemia\Hereditary hypertyrosinemia\Tyrosinemia type I

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

Descriptions:

Id Description Lang Type Status Case? Module

2465507011 Tyrosinemia type I (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

2469188016 Tyrosinaemia type I en Synonym Active Only initial character case insensitive SNOMED CT core module

2469662018 Tyrosinemia type I en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Tyrosinemia type I	Is a	Clinical manifestation of enzyme deficiency	true	Inferred relationship	Existential restriction modifier
Tyrosinemia type I	Is a	Hereditary hypertyrosinemia	true	Inferred relationship	Existential restriction modifier
Tyrosinemia type I	Due to	Deficiency of fumarylacetoacetase	true	Inferred relationship	Existential restriction modifier	1
Tyrosinemia type I	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Tyrosinemia type I	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets