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hyalienefibromatosesyndroom (aandoening)
hyalienefibromatosesyndroom
syndroom van Murray-Puretic-Drescher
Hyaline fibromatosis syndrome
A rare genetic disease characterized by infantile or childhood onset of abnormal growth of hyalinized fibrous tissue, giving rise to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp, ears, neck, face, hands, and feet. Involvement of other organs results in gingival hyperplasia, osteolytic bone lesions, and joint contractures. Some patients exhibit visceral involvement with intractable diarrhea, increased susceptibility to infections, and severe failure to thrive.
Id1197494003
StatusPrimitive
Associated morphologyosteolyse
Finding sitebotstructuur
Associated morphologyfibreuze dysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Associated morphologyhyaliene degeneratie
Associated morphologyfibromatose
Finding sitestructuur van huid
Associated morphologycontractuur
Finding sitestructuur van gewricht
ICD-10 complex map reference set
TargetM72.89
RuleTRUE
AdviceALWAYS M72.89 | 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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