303098002: 3-Phosphoglycerate dehydrogenase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of serine metabolism\3-Phosphoglycerate dehydrogenase 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

445173015 3-Phosphoglycerate dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

699276016 3-Phosphoglycerate dehydrogenase deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

445173015 3-Phosphoglycerate dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

699276016 3-Phosphoglycerate dehydrogenase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

699276016 3-Phosphoglycerate dehydrogenase deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3455241001000116 3-Phosphoglycerat-Dehydrogenase-Mangel, infantile/juvenile Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

993481000172113 déficit en 3-phosphoglycerate déshydrogénase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

993481000172113 déficit en 3-phosphoglycerate déshydrogénase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3455241001000116 3-Phosphoglycerat-Dehydrogenase-Mangel, infantile/juvenile Form 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
3-Phosphoglycerate dehydrogenase deficiency	Is a	Disorder of serine metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
3-Phosphoglycerate dehydrogenase deficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
3-Phosphoglycerate dehydrogenase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)	Is a	True	3-Phosphoglycerate dehydrogenase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Is a	True	3-Phosphoglycerate dehydrogenase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Neu-Laxova syndrome	Is a	True	3-Phosphoglycerate dehydrogenase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets