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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-mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type
Young-Simpson syndrome
Say-Barber-Biesecker-Young-Simpson syndrome
Hypothyroidism, dysmorphism, postaxial polydactyly, intellectual disability syndrome
Blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type
Say-Barber-Biesecker-Young-Simpson variant of Ohdo 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.
Id699298009
StatusPrimitive
Associated morphologydeformiteit
Finding sitestructuur van palpebra
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified