| familiaire hypertryptofanemie (aandoening) | | familiaire hypertryptofanemie | | familiale hypertryptofanemie
| | Familial hypertryptophanemia | | A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association. |
| | Id | 721838005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E70.8 | | Term | Overige gespecificeerde stofwisselingsstoornissen van aromatische aminozuren |
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| SNOMED CT to Orphanet simple map | 2224 |
| SNOMED CT to ICD-10 extended map | | Target | E70.8 | | Rule | TRUE | | Advice | ALWAYS E70.8 | 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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