Autosomal recessive hereditary disorder	Congenital anomaly of skeletal bone	Congenital microcephaly	Congenital neurological disorder	Developmental hereditary disorder	Epilepsy	Hereditary disorder of musculoskeletal system	Hereditary disorder of nervous system	Intellectual disability	Multiple malformation syndrome with facial defects as major feature	Skeletal dysplasia
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Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
	Epilepsy, microcephaly, skeletal dysplasia syndrome
	Battaglia Neri syndrome
	Syndrome with the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two siblings (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children.
	syndroom van epilepsie, microcefalie en skeletdysplasie
	syndroom van Battaglia-Neri

Id	733031004
Status	Primitive

Finding site

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

Associated morphology	Congenital smallness
Finding site	Head structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dysplasia
Finding site	Bone structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Below reference range
Interprets	Birth 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