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syndroom van blefarofimose en verstandelijke beperking Verloes-type (aandoening)
syndroom van blefarofimose en verstandelijke beperking Verloes-type
BMRS Verloes-type
BMRS type V
syndroom van blefarofimose en mentale retardatie type V
Blepharophimosis, intellectual disability syndrome, Verloes type
Blepharophimosis, intellectual disability syndrome type V
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.
Id778009001
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 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified