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Deficiency of phosphoserine aminotransferase (disorder)
Phosphoserine aminotransferase deficiency
Deficiency of phosphoserine aminotransferase
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.
deficiëntie van fosfoserine-aminotransferase
fosfoserine-aminotransferasedeficiëntie
Id718603002
StatusPrimitive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE72.8
RuleTRUE
AdviceALWAYS E72.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified