agenesie van corpus callosum	autosomaal recessieve hereditaire aandoening	chronische encefalopathie	hereditaire aandoening van zenuwstelsel	osteopetrose
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syndroom van infantiele osteopetrose en neuroaxonale dysplasie (aandoening)
	syndroom van infantiele osteopetrose en neuroaxonale dysplasie
	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.

Id	724226009
Status	Primitive

Associated morphology	agenesie
Finding site	geheel corpus callosum
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	morfologische afwijking
Finding site	botstructuur
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	onder referentiebereik
Interprets	snelheid van osteoclastturnover

Clinical course

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

85179

SNOMED CT to ICD-10 extended map

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