237928008: Disorder of ornithine metabolism (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the urea cycle metabolism\Disorder of ornithine metabolism (disorder)

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

356598013 Disorder of ornithine metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626731012 Disorder of ornithine metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3036948015 Ornithine metabolism disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1014781000172114 trouble du métabolisme de l'ornithine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3443901001000114 Ornithin-Stoffwechselstörung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of ornithine metabolism (disorder)	Is a	Disorder of the urea cycle metabolism	true	Inferred relationship	Some
Disorder of ornithine metabolism (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Disorder of ornithine metabolism (disorder)	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ornithine aminotransferase deficiency	Is a	True	Disorder of ornithine metabolism (disorder)	Inferred relationship	Some
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Is a	True	Disorder of ornithine metabolism (disorder)	Inferred relationship	Some
A rare disorder of ornithine metabolism characterized by global developmental delay, alopecia, macrocephaly, and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears, and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism, and clinodactyly, among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces.	Is a	True	Disorder of ornithine metabolism (disorder)	Inferred relationship	Some

This concept is not in any reference sets