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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.
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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