autosomaal dominante hereditaire aandoening
gegeneraliseerde dystrofische epidermolysis bullosa
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autosomaal dominante gegeneraliseerde dystrofische epidermolysis bullosa (aandoening)
autosomaal dominante gegeneraliseerde dystrofische epidermolysis bullosa
autosomaal dominante gegeneraliseerde epidermolysis bullosa dystrophica
gegeneraliseerde DDEB
Autosomal dominant generalized dystrophic epidermolysis bullosa
Generalized DDEB (generalized dystrophic epidermolysis bullosa)
DDEB (dominant dystrophic epidermolysis bullosa) intermediate
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.
Id1231284001
StatusPrimitive
Associated morphologyepidermolyse
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
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