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syndroom van piebaldisme en neurologische uitval (aandoening)
syndroom van piebaldisme en neurologische uitval
syndroom van Telfer-Sugar-Jaeger
Piebald trait with neurologic defects syndrome
Telfer Sugar Jaeger syndrome
Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.
Id773984007
StatusPrimitive
Associated morphologyhypopigmentatie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ82.8
TermOverige gespecificeerde congenitale misvormingen van huid
SNOMED CT to Orphanet simple map2885
SNOMED CT to ICD-10 extended map
TargetE70.3
RuleTRUE
AdviceALWAYS E70.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified