Congenital ptosis of upper eyelid
Craniosynostosis syndrome
Genetic disease
Intellectual disability
Multiple malformation syndrome with facial defects as major feature
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Metopic ridging, ptosis, facial dysmorphism syndrome (disorder)
Metopic ridging, ptosis, facial dysmorphism syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability and characteristics of abnormal head shape/metopic ridging and facial dysmorphism which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds and short upturned nose. Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum.
syndroom van metopica-richel, ptose en faciale dysmorfie
syndroom van botrichel ter hoogte van voorhoofdsnaad, ptosis en faciale dysmorfie
Id1179283004
StatusPrimitive
Associated morphologyProlapse
Finding siteUpper eyelid structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCongenital premature fusion
Finding siteJoint structure of suture of skull
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
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