Autosomal dominant hereditary disorder	Congenital anomaly of central nervous system	Developmental hereditary disorder	Hereditary disorder of nervous system	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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Cerebrooculonasal syndrome (disorder)
	Cerebrooculonasal syndrome
	Cerebro-oculo-nasal syndrome
	A multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay. Additional features include brachycephaly and other facial anomalies. Non-facial anomalies have also been reported: postaxial polydactyly, genital hypoplasia. All cases reported so far have been sporadic, suggesting that the syndrome may be due to a new dominant mutation.
	cerebro-oculonasaal syndroom

Id	720855003
Status	Primitive

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

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

DHD Diagnosis thesaurus reference set

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