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syndroom van autosomaal recessieve palmoplantaire keratodermie en congenitale alopecia (aandoening)
syndroom van autosomaal recessieve palmoplantaire keratodermie en congenitale alopecia
Wallis-type PPK-CA
autosomaal recessieve palmoplantaire keratoderma en aangeboren kaalheid
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
Autosomal recessive palmoplantar keratoderma and congenital alopecia Wallis type
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.
Id719104003
StatusPrimitive
Associated morphologyafwezigheid
Finding sitestructuur van haar
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhyperkeratose
Finding sitestructuur van huid van voetzool
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1366
SNOMED CT to ICD-10 extended map
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ84.0
RuleTRUE
AdviceALWAYS Q84.0
CorrelationSNOMED CT source code to target map code correlation not specified