| 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
| | Autosomal recessive dopa responsive dystonia (DYT5b) is a very rare neurometabolic disorder with a spectrum of symptoms ranging from those seen in dopa responsive dystonia to progressive infantile encephalopathy. Disease presents in infancy (most frequently in the first year of life) with a progressive hypokinetic rigid syndrome, involuntary jerky movements, postural tremor, or gait disturbances that may fluctuate during the day and show good or excellent responsiveness to levodopa in most cases. DYT5b is caused by mutations in the tyrosine hydroxylase TH gene (11p15.5). Inherited in an autosomal recessive manner. |
| | 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 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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