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Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder)
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
Loucks Innes syndrome
Developmental delay, short stature, dysmorphic features, sparse hair syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement.
Id1217229007
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure of cranium
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteBone structure of face
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsBody height
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