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Transient bullous dermolysis of newborn (disorder)
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.
passagère epidermolysis bullosa dystrophica bij neonaat
TBDN
transiënte epidermolysis bullosa dystrophica bij pasgeborene
transiënte neonatale epidermolysis bullosa dystrophica
voorbijgaande bulleuze dermolyse bij pasgeborene
Id723553000
StatusPrimitive
Associated morphologyEpidermolysis
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyEpidermolysis
Clinical courseTransitory
Finding siteSkin structure
OccurrenceNeonatal
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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