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syndroom van progeroïde symptomen en predispositie voor hepatocellulair carcinoom (aandoening)
syndroom van progeroïde symptomen en predispositie voor hepatocellulair carcinoom
Ruijs-Aalfs-syndroom
Progeroid features, hepatocellular carcinoma predisposition syndrome
Ruijs Aalfs syndrome
A rare inherited cancer-predisposing syndrome with characteristics of early-onset hepatocellular carcinoma, genomic instability and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts and premature hair graying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly and pes planus have also been reported.
Id1216939003
StatusPrimitive
Occurrencecongenitaal
Finding sitestructuur van huid
ICD-10 complex map reference set
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