276426004: deficiëntie van ornithine-oxozuuraminotransferase (aandoening)

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

\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the urea cycle metabolism\Disorder of ornithine metabolism\Ornithine aminotransferase deficiency

\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Ornithine aminotransferase deficiency

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

412550019 Ornithine aminotransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

412551015 Ornithine ketoacid transaminase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

412552010 OKT deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

412553017 Ornithine-oxo-acid amino acid transferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

412554011 Ornithine-delta-aminotransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

412555012 OAT - Ornithine oxo-acid aminotransferase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

412556013 OAT deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

669339011 Ornithine oxo-acid aminotransferase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2476096010 Deficiency of ornithine-oxo-acid aminotransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2669599018 Ornithine oxo-acid aminotransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6834371000146114 deficiëntie van ornithine-oxozuuraminotransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8645421000146118 deficiëntie van ornithine-oxozuuraminotransferase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11194621000146118 deficiëntie van ornithinedelta-aminotransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11194631000146116 deficiëntie van OAT nl Synonym (core metadata concept) Active Only initial character 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
Ornithine aminotransferase deficiency	Is a	Disorder of ornithine metabolism	true	Inferred relationship	Some
Ornithine aminotransferase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Ornithine aminotransferase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Ornithine aminotransferase deficiency	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ornithinemia with gyrate atrophy	Is a	False	Ornithine aminotransferase deficiency	Inferred relationship	Some
Gyrate atrophy	Associated etiologic finding	False	Ornithine aminotransferase deficiency	Inferred relationship	Some
Gyrate atrophy	Due to	True	Ornithine aminotransferase deficiency	Inferred relationship	Some	1

This concept is not in any reference sets