autosomaal recessieve epidermolysis bullosa simplex
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epidermolysis bullosa simplex door plakophilinedeficiëntie (aandoening)
epidermolysis bullosa simplex door plakophilinedeficiëntie
Epidermolysis bullosa simplex due to plakophilin deficiency
McGrath syndrome
Ectodermal dysplasia skin fragility syndrome
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex characterized by generalized superficial erosions and less commonly blistering.
Id716699004
StatusPrimitive
Associated morphologyepidermolyse
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ81.0
TermEpidermolysis bullosa simplex
SNOMED CT to Orphanet simple map158668
SNOMED CT to ICD-10 extended map
TargetQ81.0
RuleTRUE
AdviceALWAYS Q81.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified