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 is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.
Id724226009
StatusPrimitive
Associated morphologyAgenesis
Finding siteEntire corpus callosum
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsOsteoclast turnover rate
Clinical courseProgressive
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetQ78.2
RuleTRUE
AdviceALWAYS Q78.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified