90093009: hereditaire orootacidurie type 2 (aandoening)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Orotic aciduria\Hereditary orotic aciduria\Hereditary orotic aciduria, type 2

\Metabolic disease\Disorder of purine and pyrimidine metabolism\Hereditary orotic aciduria, type 2
\Metabolic disease\Disorder of pyrimidine metabolism\Orotic aciduria\Hereditary orotic aciduria\Hereditary orotic aciduria, type 2
\Metabolic disease\Enzymopathy\Hereditary orotic aciduria\Hereditary orotic aciduria, type 2

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

149333011 Hereditary orotic aciduria, type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

149334017 OMP decarboxylase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

149335016 Orotidine-5'-phosphate decarboxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

833125016 Hereditary orotic aciduria, type 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1235531012 Orotidine-5-phosphate decarboxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1235532017 Hereditary orotic aciduria type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6994661000146114 erfelijke orootacidurie type 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6994671000146115 erfelijke orotische acidurie type 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8617821000146119 hereditaire orootacidurie type 2 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8671771000146114 hereditaire orootacidurie type 2 nl Synonym (core metadata concept) 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
Hereditary orotic aciduria, type 2	Is a	Hereditary orotic aciduria	true	Inferred relationship	Some
Hereditary orotic aciduria, type 2	Is a	Disorder of purine and pyrimidine metabolism	true	Inferred relationship	Some
Hereditary orotic aciduria, type 2	Occurrence	Congenital	false	Inferred relationship	Some
Hereditary orotic aciduria, type 2	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets