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tricho-odonto-onychiale dysplasie (aandoening)
tricho-odonto-onychiale dysplasie
tricho-odonto-onychiale dysplasie met botdeficiƫntie in frontopariƫtaal gebied
Trichoodontoonychial dysplasia
Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region
A rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.
Id766813000
StatusPrimitive
Associated morphologymorfologische afwijking
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)
SNOMED CT to Orphanet simple map3355
SNOMED CT to ICD-10 extended map
TargetQ82.4
RuleTRUE
AdviceALWAYS Q82.4
CorrelationSNOMED CT source code to target map code correlation not specified