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Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome (disorder)
Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome
BCL11B-related neurodevelopmental disorder
A rare genetic syndromic neurodevelopmental disorder characterized by intellectual disability, speech and motor delay, and distinctive craniofacial features. Immune involvement is common, though only some individuals develop immunodeficiency or autoimmunity. Additional features may include craniosynostosis, seizures, brain MRI abnormalities, and refractive errors.
Id1373748007
StatusPrimitive
Has interpretationgestoord
InterpretsAdaptation behavior
Has interpretationgestoord
Interpretsintellectueel vermogen
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