Agenesis of corpus callosum	Autosomal recessive hereditary disorder	Chronic brain syndrome	Hereditary disorder of nervous system	Osteopetrosis
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Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder)
	Infantile osteopetrosis with neuroaxonal dysplasia syndrome
	Infantile osteopetrosis with neuroaxonal dysplasia
	This syndrome has characteristics of osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. It has been described in a brother and a sister born to nonconsanguineous Caucasian parents. The children died at the ages of 1 and 9 months, respectively. Several additional cases combining axonal dystrophy and osteopetrosis have been described.
	syndroom van infantiele osteopetrose en neuroaxonale dysplasie

Id	724226009
Status	Primitive

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

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

Has interpretation	Below reference range
Interprets	Osteoclast turnover rate

Clinical course

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q78.2
Rule	TRUE
Advice	ALWAYS Q78.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified