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passagère epidermolysis bullosa dystrophica bij neonaat (aandoening)
passagère epidermolysis bullosa dystrophica bij neonaat
TBDN
transiënte epidermolysis bullosa dystrophica bij pasgeborene
transiënte neonatale epidermolysis bullosa dystrophica
voorbijgaande bulleuze dermolyse bij pasgeborene
Transient bullous dermolysis of newborn
A rare subtype of dystrophic epidermolysis bullosa characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. Less than 30 cases have been reported to date. The disease usually manifests at birth. Skin blisters generally affect the whole body. Blisters can also affect the oral cavity. Disease activity usually ceases within the first 6 to 24 months of life. However, nail dystrophy and some degree of skin fragility can persist in adulthood. Caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to reduced amounts or an alteration in function of collagen VII. The condition is usually inherited in an autosomal dominant manner, but can also rarely be transmitted as an autosomal recessive trait.
Id723553000
StatusPrimitive
Associated morphologyepidermolyse
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyepidermolyse
Clinical coursetransitoir
Finding sitestructuur van huid
Occurrenceneonataal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ81.2
RuleTRUE
AdviceALWAYS Q81.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified