415764005: tyrosinemie type 3 (aandoening)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tyrosinemia type III (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\4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder)\Tyrosinemia type III (disorder)
\Metabolic disease\Enzymopathy\4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder)\Tyrosinemia type III (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2530083018 Tyrosinemia type III (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2533519017 Tyrosinemia type III en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2533520011 Tyrosinaemia type III en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3035359011 Tyrosinemia type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3035481017 Tyrosinaemia type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5314213014 HPD-gene related tyrosinemia type III en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5314214015 HPD-gene related tyrosinaemia type III en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
390911000146118 tyrosinemie type 3 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
390921000146111 tyrosinemie type 3 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Tyrosinemia type III (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Tyrosinemia type III (disorder)	Is a	4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder)	true	Inferred relationship	Some
Tyrosinemia type III (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