47641009: acidurie met orootzuur (aandoening)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Orotic aciduria

\Metabolic disease\Disorder of pyrimidine metabolism\Orotic aciduria

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

79408019 Orotic aciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

785122016 Orotic aciduria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2374791000146114 acidurie met orootzuur (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

2422701000146118 acidurie met orootzuur 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
Orotic aciduria	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Orotic aciduria	Is a	Disorder of pyrimidine metabolism	true	Inferred relationship	Some
Orotic aciduria	Occurrence	Congenital	false	Inferred relationship	Some
Orotic aciduria	Finding site	Body system structure	false	Inferred relationship	Some
Orotic aciduria	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary orotic aciduria	Is a	True	Orotic aciduria	Inferred relationship	Some
Secondary orotic aciduria	Is a	True	Orotic aciduria	Inferred relationship	Some

This concept is not in any reference sets