Autosomal recessive hereditary disorder	Congenital macrocephaly	Dandy-Walker syndrome	Developmental hereditary disorder	Hereditary disorder of nervous system	Hereditary disorder of the visual system	Intellectual disability	Multiple malformation syndrome with facial defects as major feature	Severe myopia
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Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
	Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome
	Syndrome with characteristics of Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.
	syndroom van faciale dysmorfie, macrocefalie, myopie en Dandy-Walker-malformatie

Id	733417008
Status	Primitive

Associated morphology	Cystic dilatation
Finding site	Fourth ventricle structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Cystic dilatation
Finding site	Infratentorial brain structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site	Structure of visual system
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hypoplasia
Finding site	Cerebellar vermis structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Congenital malrotation
Finding site	Cerebellar vermis structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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

Has interpretation	Above reference range
Interprets	Head circumference

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