Phosphoserine aminotransferase deficiency

Preferred Label : Phosphoserine aminotransferase deficiency;

ICD-11 definition : Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.;

ICD-11 synonym : Neurometabolic disorder due to serine deficiency;

Details

Origin ID

1210469497;

UMLS CUI

C1970253;

Currated CISMeF NLP mapping
- Deficiency of phosphoserine aminotransferase (disorder) [SNOMED CT concept]
- PSAT deficiency [DO Concept]
- Phosphoserine aminotransferase deficiency [OMIM Phenotype]
- Phosphoserine aminotransferase deficiency, infantile/juvenile form [ORDO Disease]
- phosphoserine aminotransferase deficiency [MeSH concept]
- phosphoserine aminotransferase deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of phosphoserine aminotransferase (disorder) [SNOMED CT concept]
- Neurometabolic disorder due to serine deficiency [ORDO Disease]
- PSAT deficiency [DO Concept]
- Phosphoserine aminotransferase deficiency [OMIM Phenotype]
- Phosphoserine aminotransferase deficiency, infantile/juvenile form [ORDO Disease]
- phosphoserine aminotransferase deficiency [MeSH concept]
- phosphoserine aminotransferase deficiency [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Neurometabolic disorder due to serine deficiency [ORDO Disease]

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