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 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 Only initial character case insensitive (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

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	Some
3-Phosphoglycerate dehydrogenase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
3-Phosphoglycerate dehydrogenase deficiency	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
An autosomal recessive form of serine deficiency. The juvenile disease has clinical characteristics in the few reported cases of absence seizures, moderate developmental delay and behavioral disorders.	Is a	True	3-Phosphoglycerate dehydrogenase deficiency	Inferred relationship	Some
An autosomal recessive form of serine deficiency. The infantile disease has clinical characteristics in the few reported cases of congenital microcephaly, psychomotor retardation and intractable seizures.	Is a	True	3-Phosphoglycerate dehydrogenase deficiency	Inferred relationship	Some
Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.	Is a	True	3-Phosphoglycerate dehydrogenase deficiency	Inferred relationship	Some

This concept is not in any reference sets