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syndroom van laat optredende gelokaliseerde junctionele epidermolysis bullosa en verstandelijke beperking (aandoening)
syndroom van laat optredende gelokaliseerde junctionele epidermolysis bullosa en verstandelijke beperking
syndroom van laat optredende gelokaliseerde junctionele epidermolysis bullosa en verstandelijke handicap
syndroom van laat optredende gelokaliseerde junctionele epidermolysis bullosa en mentale retardatie
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome
A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.
Id773692000
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van enamelum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyepidermolyse
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ81.8
RuleTRUE
AdviceALWAYS Q81.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified