Delayed bone age
Developmental delay
Disorder of bone
Disorder of skeletal muscle
Genetic disease
Intellectual disability
Multiple malformation syndrome with facial defects as major feature
Muscle weakness
Short stature disorder
|||||||||
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome (disorder)
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of intellectual disability, developmental delay, delayed bone age, short stature, generalized muscle weakness and dysmorphic facial features (such as high arched eyebrows, downslanting palpebral fissures, prominent nose and narrow palate and mouth). Additional reported manifestations include blue sclerae, ophthalmoplegia and intention tremor. Brain imaging may show white matter abnormalities.
Id1208746001
StatusPrimitive
Finding siteSkeletal muscle structure
Finding siteBone structure
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsBody height measure
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