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Congenital scalp aplasia cutis, enamel hypoplasia, developmental delay, intellectual disability syndrome (disorder)
Congenital scalp aplasia cutis, enamel hypoplasia, developmental delay, intellectual disability syndrome
FOSL2-related neurodevelopmental disorder
A rare multiple congenital anomalies/dysmorphic syndrome characterized by congenital aplasia cutis of variable size along the midline of the scalp, tooth enamel hypoplasia and discoloration, and delayed psychomotor development or intellectual disability. Additional clinical features may include intrauterine or postnatal growth retardation, autism spectrum disorder, congenital cataracts, skull defects and seizures.
Id1396402000
StatusPrimitive
Associated morphologyaplasia
Finding sitestructuur van huid van scalp
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van enamelum
SNOMED CT to ICD-10 extended map
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