| blefarofimose-mentaleretardatiesyndroom Say-Barber-Biesecker-Young-Simpson-type (aandoening) | | blefarofimose-mentaleretardatiesyndroom Say-Barber-Biesecker-Young-Simpson-type | | syndroom van Ohdo Say-Barber-Biesecker-Young-Simpson-type
| | Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | | Blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type
Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome
Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type
Young-Simpson syndrome
Say-Barber-Biesecker-Young-Simpson syndrome
Hypothyroidism, dysmorphism, postaxial polydactyly, intellectual disability syndrome
| | Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. |
| | Id | 699298009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 3047 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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