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keratine-14-gerelateerde epidermolysis bullosa simplex (aandoening)
keratine-14-gerelateerde epidermolysis bullosa simplex
KRT14 related epidermolysis bullosa simplex
Keratin 14 related epidermolysis bullosa simplex
EBS-AR KRT14 - epidermolysis bullosa simplex autosomal recessive keratin 14
A rare, inherited, epidermolysis bullosa simplex characterized by neonatal onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation.
Id724206005
StatusPrimitive
SNOMED CT to Orphanet simple map89838
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