juveniele hyaliene fibromatose (aandoening)
juveniele hyaliene fibromatose
syndroom van Murray-Puretic-Drescher
Juvenile hyaline fibromatosis
Puretic syndrome
Murray Puretic Drescher syndrome
Systemic hyalinosis
A rare hyaline fibromatosis syndrome with characteristics of papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material.
Associated morphologyfibreuze dysplasie
Finding sitebotstructuur
Associated morphologyhyaliene degeneratie
Associated morphologyosteolyse
Finding sitebotstructuur
Associated morphologycontractuur
Finding sitestructuur van gewricht
Associated morphologyfibromatose
Finding sitestructuur van huid
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde fibroblastaire aandoeningen van lokalisatie niet gespecificeerd
SNOMED CT to Orphanet simple map2028
SNOMED CT to ICD-10 extended map
AdviceALWAYS M72.99
CorrelationSNOMED CT source code to target map code correlation not specified