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syndroom van pigmentanomalie, ectrodactylie en hypodontie (aandoening)
syndroom van pigmentanomalie, ectrodactylie en hypodontie
syndroom van Propping-Zerres
acro-dermato-unguaal-lacrimaal-dentaalsyndroom
ADULT-syndroom
ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome
Acro-dermato-ungual-lacrimal-tooth syndrome
The ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome has characteristics of ectrodactyly, excessive freckling, onychodysplasia, obstruction of lacrimal ducts and hypodontia and/or early loss of permanent teeth. Variable clinical expression is observed. Fourteen cases have been described so far. Transmission is autosomal dominant.
Id720464003
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van nagel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwezigheid
Finding sitegehele digitus van hand of voet
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map978
SNOMED CT to ICD-10 extended map
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified