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syndroom van acro-osteolyse met keloïdachtig afwijkend weefsel en voortijdige veroudering (aandoening)
syndroom van acro-osteolyse met keloïdachtig afwijkend weefsel en voortijdige veroudering
Acroosteolysis, keloid-like lesions, premature aging syndrome
Premature aging syndrome, Penttinen type
Premature ageing syndrome Penttinen type
A rare genetic progeroid syndrome disorder with characteristics of a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose. There is evidence the disease is caused by heterozygous mutation in the PDGFRB gene on chromosome 5q32.
Id776417008
StatusPrimitive
Finding sitestructuur van huid
Occurrencecongenitaal
Finding sitebotstructuur
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE34.8
RuleTRUE
AdviceALWAYS E34.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified