| autosomaal recessieve L-doparesponsieve dystonie (aandoening) | | autosomaal recessieve L-doparesponsieve dystonie | | autosomaal recessieve doparesponsieve dystonie
autosomaal recessieve ziekte van Segawa
| | Autosomal recessive dopa responsive dystonia | | Tyrosine hydroxylase deficient dopa responsive dystonia
Tyrosine hydroxylase deficiency
Autosomal recessive Segawa syndrome
| | A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. |
| | Id | 715827001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E70.2 | | Term | Stoornissen van tyrosinemetabolisme |
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| SNOMED CT to Orphanet simple map | 101150 |
| SNOMED CT to ICD-10 extended map | | Target | G24.1 | | Rule | TRUE | | Advice | ALWAYS G24.1 | 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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