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4H-leukodystrofie (aandoening)
4H-leukodystrofie
POLR-gerelateerde leukodystrofie
4H leukodystrophy
POLR-related leukodystrophy
A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms. Age of onset typically ranges from infancy to childhood but exceptionally may occur in late adolescence or early adulthood. Mutations of the genes encoding POLR3 (RNA polymerase III) subunits, POLR3A, POLR3B and POLR1C, have been identified. The disease is inherited in an autosomal recessive manner.
Id1208933000
StatusPrimitive
SNOMED CT to Orphanet simple map289494
SNOMED CT to ICD-10 extended map
TargetG93.8
RuleTRUE
AdviceALWAYS G93.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
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