autosomaal dominante hereditaire aandoening
ectodermale dysplasie
hereditaire aandoening van integumentum
hereditaire ontwikkelingsstoornis
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ectodermale dysplasie met natale gebitselementen Turnpenny-type (aandoening)
ectodermale dysplasie met natale gebitselementen Turnpenny-type
ectodermale dysplasie met dentes natale type Turnpenny
ectodermale dysplasie met natale tanden en/of kiezen type Turnpenny
Ectodermal dysplasia with natal teeth Turnpenny type
A rare disorder with manifestation of hypo or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients are born with multiple teeth. Hair anomalies (sparse body and scalp hair) also reported. Inheritance is autosomal dominant.
Id715576000
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van huid
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 map69083
SNOMED CT to ICD-10 extended map
TargetQ82.4
RuleTRUE
AdviceALWAYS Q82.4
CorrelationSNOMED CT source code to target map code correlation not specified