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syndroom van odonto-onychodysplasie en alopecia (aandoening)
syndroom van odonto-onychodysplasie en alopecia
Odonto onycho dysplasia with alopecia syndrome
Odonto-onycho dysplasia alopecia syndrome
A rare genetic ectodermal dysplasia syndrome with characteristics of almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe au lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.
Id763828007
StatusPrimitive
Associated morphologyafwezigheid
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ82.4
TermEctodermale dysplasie (anhidrotisch)
TargetL65.8
TermOverige gespecificeerde vormen van haarverlies zonder littekenvorming
SNOMED CT to Orphanet simple map2722
SNOMED CT to ICD-10 extended map
TargetQ82.4
RuleTRUE
AdviceALWAYS Q82.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetL65.8
RuleTRUE
AdviceALWAYS L65.8
CorrelationSNOMED CT source code to target map code correlation not specified