718603002: deficiëntie van fosfoserine-aminotransferase (aandoening)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Deficiency of phosphoserine aminotransferase (disorder)

\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of serine metabolism\Deficiency of phosphoserine aminotransferase (disorder)
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of aminotransferase\Deficiency of phosphoserine aminotransferase (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3312886015 Deficiency of phosphoserine aminotransferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3312887012 Phosphoserine aminotransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3312888019 Deficiency of phosphoserine aminotransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6010411000146112 fosfoserine-aminotransferasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6010421000146119 deficiëntie van fosfoserine-aminotransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8645311000146115 deficiëntie van fosfoserine-aminotransferase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3312889010 An extremely rare form of serine deficiency syndrome with clinical manifestations in the two reported cases to date of acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of phosphoserine aminotransferase (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Deficiency of phosphoserine aminotransferase (disorder)	Is a	Deficiency of aminotransferase	true	Inferred relationship	Some
Deficiency of phosphoserine aminotransferase (disorder)	Is a	Disorder of serine metabolism	true	Inferred relationship	Some
Deficiency of phosphoserine aminotransferase (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets