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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 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.
Id724226009
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyagenesie
Finding sitegeheel corpus callosum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
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