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Ophthalmological abnormalities, facial dysmorphism, intellectual disability syndrome (disorder)
Ophthalmological abnormalities, facial dysmorphism, intellectual disability syndrome
BRPF1-related neurodevelopmental disorder
A rare genetic syndrome characterized by developmental delay, intellectual disability, ophthalmological abnormalities and dysmorphic facial features such as ptosis and round face.
Id1396405003
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified