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syndroom van osteopathia striata, pigmentaire dermatopathie en poliosis circumscripta (aandoening)
syndroom van osteopathia striata, pigmentaire dermatopathie en poliosis circumscripta
syndroom van osteopathia striata, pigmentaire dermatopathie en witte haarlok
Osteopathia striata, pigmentary dermopathy, white forelock syndrome
Whyte Murphy syndrome
Syndrome with characteristics of the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular hyperpigmented dermopathy and a white forelock. It has been observed in a woman and her two daughters, whereas her son is unaffected. X-linked or autosomal dominant inheritance is proposed.
Id787408008
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationboven referentiebereik
Interpretsbotdensitometrie
Associated morphologyhyperpigmentatie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ77.8
TermOverige gespecificeerde vormen van osteochondrodysplasie met groeistoornissen van pijpbeenderen en wervelkolom
SNOMED CT to Orphanet simple map2779
SNOMED CT to ICD-10 extended map
TargetQ77.8
RuleTRUE
AdviceALWAYS Q77.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified