Autosomal recessive hereditary disorder	Congenital strabismus	Congenital valgus deformity of foot	Developmental hereditary disorder	Genetic intellectual disability	Hereditary disorder of the visual system	Multiple malformation syndrome with facial-limb defects as major feature	Severe intellectual disability
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Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
	Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported.

Id	1197591008
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Eye region structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Planovalgus
Finding site	Foot structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Impaired
Interprets	Intellectual ability

Has interpretation	Impaired
Interprets	Adaptation behavior

SNOMED CT to Orphanet simple map

SNOMED CT to ICD-10 extended map

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified