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syndroom van ectodermale dysplasie en syndactylie (aandoening)
syndroom van ectodermale dysplasie en syndactylie
EDSS1
EDSS
Ectodermal dysplasia syndactyly syndrome
A rare genetic ectodermal dysplasia syndrome with characteristics of sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. Caused by homozygous or compound heterozygous mutation in the PVRL4 gene (NECTIN4) on chromosome 1q23.
Id771335004
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwezigheid
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
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