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syndroom van ectodermale dysplasie, hyperhidrose en cutane syndactylie (aandoening)
syndroom van ectodermale dysplasie, hyperhidrose en cutane syndactylie
syndroom van ectodermale dysplasie, overmatige transpiratie en eenvoudige syndactylie
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome
A rare ectodermal dysplasia syndrome with characteristics of hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported.
Id1279835008
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van enamelum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van nagel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyverandering in groei
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhyperkeratose
Finding sitestructuur van huid van voetzool
Has interpretationexcessief
Interpretszweten
SNOMED CT to Orphanet simple map247827
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