Autosomal recessive hereditary disorder	Congenital corneal dystrophy	Congenital malformation of genital organs	Developmental hereditary disorder	Disorder of pelvic region of trunk	Dysgenesis of the cerebellum	Global developmental delay	Hereditary corneal dystrophy	Hereditary disorder of nervous system	Intellectual disability	Multiple malformation syndrome with facial defects as major feature	Reproductive system hereditary disorder
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Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome (disorder)
	Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome
	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons.
	congenitaal syndroom van labioscrotale agenesie, malformatie van cerebellum, corneadystrofie en faciale dysmorfie
	aangeboren syndroom van labioscrotale agenesie, cerebellaire malformatie, corneadystrofie en faciale dysmorfie

Id	1172594000
Status	Primitive

Associated morphology	Dystrophy
Finding site	Corneal structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Cerebellar 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	Agenesis
Finding site	Entire external genitalia
Occurrence	Congenital
Pathological process	Pathological developmental process

ICD-10 complex map reference set

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified