Agenesis of corpus callosum	Developmental hereditary disorder	Genitourinary congenital anomalies	Hereditary disorder of nervous system	Intellectual disability	Multiple system malformation syndrome	X-linked recessive hereditary disease
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Agenesis of corpus callosum and abnormal genitalia syndrome (disorder)
	Agenesis of corpus callosum and abnormal genitalia syndrome
	Microcephaly, corpus callosum agenesis, abnormal genitalia syndrome Proud Levine Carpenter syndrome Corpus callosum agenesis, abnormal genitalia syndrome Proud syndrome
	A rare genetic developmental defect during embryogenesis syndrome with characteristics of agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophrys) and optic atrophy have been observed. The disease is caused by mutation in the ARX gene.
	syndroom van agenesie van corpus callosum en afwijkende geslachtsorganen
	syndroom van agenesie van corpus callosum en genitale afwijkingen syndroom van Proud-Levine-Carpenter syndroom van agenesie van corpus callosum en afwijkende genitaliën syndroom van Proud

Id	763797003
Status	Primitive

Associated morphology	Agenesis
Finding site	Entire corpus callosum
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Structure of genitourinary system
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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