Osteopetrosis and infantile neuroaxonal dystrophy

Preferred Label : Osteopetrosis and infantile neuroaxonal dystrophy;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : ? Autosomal recessive vs contiguous gene syndrome;

Prefixed ID : 600329;

Details

Origin ID

600329;

UMLS CUI

C1838258;

Currated CISMeF NLP mapping
- Infantile osteopetrosis with neuroaxonal dysplasia [ICD-11 More detail]
- Infantile osteopetrosis with neuroaxonal dysplasia [ORDO Disease]
- Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) [SNOMED CT concept]
- Osteopetrosis and infantile neuroaxonal dystrophy [MeSH concept]
- osteopetrosis and infantile neuroaxonal dystrophy [MeSH Supplementary Concept]
DO Cross reference
- CSF1R-related brain malformation and osteopetrosis [DO Concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the skeletal system [HPO term]
- Agenesis of corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Contiguous gene syndrome [HPO term]
- Death in infancy [HPO term]
- Hypoplastic hippocampus [HPO term]
- Osteopetrosis [HPO term]
ORDO concept(s)
- Infantile osteopetrosis with neuroaxonal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile osteopetrosis with neuroaxonal dysplasia [ORDO Disease]
- Infantile osteopetrosis with neuroaxonal dysplasia [ICD-11 More detail]
- Osteopetrosis and infantile neuroaxonal dystrophy [MeSH concept]
- osteopetrosis and infantile neuroaxonal dystrophy [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients