| familiaire hypertryptofanemie (aandoening) | | familiaire hypertryptofanemie | | familiale hypertryptofanemie
| | Familial hypertryptophanemia | | Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems, periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria. |
| | 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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