Infantile osteopetrosis with neuroaxonal dysplasia

Preferred Label : Infantile osteopetrosis with neuroaxonal dysplasia;

ICD-11 definition : Infantile osteopetrosis with neuroaxonal dysplasia is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.;

Details

Origin ID

1434293148;

UMLS CUI

C1838258;

Currated CISMeF NLP mapping
- Infantile osteopetrosis with neuroaxonal dysplasia [ORDO Disease]
- Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) [SNOMED CT concept]
- Osteopetrosis and infantile neuroaxonal dystrophy [OMIM Phenotype]
- Osteopetrosis and infantile neuroaxonal dystrophy [MeSH concept]
- osteopetrosis and infantile neuroaxonal dystrophy [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile osteopetrosis with neuroaxonal dysplasia [ORDO Disease]
- Osteopetrosis and infantile neuroaxonal dystrophy [OMIM Phenotype]
- Osteopetrosis and infantile neuroaxonal dystrophy [MeSH concept]
- osteopetrosis and infantile neuroaxonal dystrophy [MeSH Supplementary Concept]

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