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zwakzinnigheid, congenitale hartziekte, blefarofimose, blefaroptose en hypoplastisch gebit (aandoening)
zwakzinnigheid, congenitale hartziekte, blefarofimose, blefaroptose en hypoplastisch gebit
blepharophimosis syndroom-OHDO type
zwakzinnigheid, congenitale hartziekte, blefarofimose, blefaroptose en hypoplastische tanden
mentale retardatie, congenitale hartziekte, blefarofimose, blefaroptose en hypoplastisch gebit
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
Ohdo blepharophimosis syndrome
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.
Id412787009
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van hart
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydeformiteit
Finding sitestructuur van palpebra
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van gebitselement
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0
CorrelationSNOMED CT source code to target map code correlation not specified