303097007: Disorder of serine metabolism (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

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

445172013 Disorder of serine metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

699275017 Disorder of serine metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

445172013 Disorder of serine metabolism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

445172013 Disorder of serine metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

699275017 Disorder of serine metabolism (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

699275017 Disorder of serine metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5190401000241119 trouble du métabolisme de la sérine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5190401000241119 trouble du métabolisme de la sérine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of serine metabolism	Is a	Disorder of amino acid metabolism (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of serine metabolism	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of serine metabolism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of serine metabolism	Is a	Disorder of amino acid and organic acid metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
3-Phosphoglycerate dehydrogenase deficiency	Is a	True	Disorder of serine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of phosphoserine aminotransferase (disorder)	Is a	True	Disorder of serine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	Is a	True	Disorder of serine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare inborn error of metabolism comprising 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency, and phosphoserine aminotransferase deficiency, and characterized by a phenotypic spectrum ranging from congenital microcephaly, psychomotor retardation, and intractable seizures in the infantile forms to milder juvenile forms with moderate developmental delay and intellectual disability.	Is a	True	Disorder of serine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets