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syndroom van progeroïd en marfanoïd aspect en lipodystrofie (aandoening)
syndroom van progeroïd en marfanoïd aspect en lipodystrofie
Progeroid and marfanoid aspect, lipodystrophy syndrome
A rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (for example macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized extreme congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated. There is evidence the disease is caused by heterozygous mutation in the FBN1 gene on chromosome 15q21.
Id773644000
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van panniculus adiposus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Finding sitestructuur van huid
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE88.1
RuleTRUE
AdviceALWAYS E88.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified