16242007: hereditaire orootacidurie (aandoening)

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

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

\Metabolic disease\Disorder of pyrimidine metabolism\Orotic aciduria\Hereditary orotic aciduria
\Metabolic disease\Enzymopathy\Hereditary 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

27484010 Hereditary orotic aciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

743228011 Hereditary orotic aciduria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6994541000146114 erfelijke orotische acidurie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6994551000146112 erfelijke orootacidurie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7025201000146110 uridinemonofosfaatsynthetasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8617541000146110 hereditaire orootacidurie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8671511000146111 hereditaire orootacidurie 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	Is a	Orotic aciduria	true	Inferred relationship	Some
Hereditary orotic aciduria	Is a	Enzymopathy	true	Inferred relationship	Some
Hereditary orotic aciduria	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary orotic aciduria	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary orotic aciduria, type 1	Is a	True	Hereditary orotic aciduria	Inferred relationship	Some
Hereditary orotic aciduria, type 2	Is a	True	Hereditary orotic aciduria	Inferred relationship	Some

This concept is not in any reference sets