| zwakzinnigheid, congenitale hartziekte, blefarofimose, blefaroptose en hypoplastisch gebit (aandoening) | | zwakzinnigheid, congenitale hartziekte, blefarofimose, blefaroptose en hypoplastisch gebit | | zwakzinnigheid, congenitale hartziekte, blefarofimose, blefaroptose en hypoplastische tanden
mentale retardatie, congenitale hartziekte, blefarofimose, blefaroptose en hypoplastisch gebit
blepharophimosis syndroom-OHDO type
| | Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | | Ohdo blepharophimosis syndrome
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
| | 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. |
| | Id | 412787009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 2728 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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