| deficiëntie van fosfoserine-aminotransferase (aandoening) | | deficiëntie van fosfoserine-aminotransferase | | fosfoserine-aminotransferasedeficiëntie
| | 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. |
| | Id | 718603002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E72.8 | | Term | Overige gespecificeerde stofwisselingsstoornissen van aminozuren |
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| SNOMED CT to Orphanet simple map | 284417 |
| SNOMED CT to ICD-10 extended map | | Target | E72.8 | | Rule | TRUE | | Advice | ALWAYS E72.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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