| hyperfenylalaninemie door deficiëntie van 'DnaJ heat shock protein family (Hsp40) member C12' (aandoening) | | hyperfenylalaninemie door DNAJC12-deficiëntie | | hyperfenylalaninemie door deficiëntie van 'DnaJ heat shock protein family (Hsp40) member C12'
HPA door deficiëntie van 'DnaJ/Hsp40 member C12'
| | Hyperphenylalaninemia due to DNAJC12 deficiency | | Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia
Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency
| | A rare inborn error of metabolism characterized by increased serum phenylalanine, associated with variable neurological symptoms ranging from mild autistic features or hyperactivity to severe intellectual disability, dystonia, and parkinsonism. Laboratory analyses show normal tetrahydrobiopterin (BH4) metabolism and low levels of the CSF monoamine neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic acid. |
| | Id | 1177177000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E70.1 | | Term | Overige hyperfenylalaninemieën |
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| SNOMED CT to Orphanet simple map | 508523 |
| SNOMED CT to ICD-10 extended map | | Target | E70.1 | | Rule | TRUE | | Advice | ALWAYS E70.1 | 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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