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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.
Id715827001
StatusPrimitive
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map101150
SNOMED CT to ICD-10 extended map
TargetG24.1
RuleTRUE
AdviceALWAYS G24.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified