Autosomal dominant osteopetrosis type 1

Preferred Label : Autosomal dominant osteopetrosis type 1;

ICD-11 definition : Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault. Clinical signs include chronic bone pain and disorders of the cranial nerves (trigeminal neuralgia, facial palsy, hearing loss).;

Details

Origin ID

1802011368;

UMLS CUI

C1843330;

Currated CISMeF NLP mapping
- Autosomal dominant osteopetrosis type 1 [ORDO Disease]
- Autosomal dominant osteopetrosis type 1 (disorder) [SNOMED CT concept]
- Osteopetrosis autosomal dominant type 1 [MeSH concept]
- Osteopetrosis, autosomal dominant 1 [OMIM Phenotype]
- autosomal dominant osteopetrosis 1 [DO Concept]
- osteopetrosis autosomal dominant type 1 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant osteopetrosis type 1 [ORDO Disease]
- Autosomal dominant osteopetrosis type 1 (disorder) [SNOMED CT concept]
- Osteopetrosis autosomal dominant type 1 [MeSH concept]
- Osteopetrosis, autosomal dominant 1 [OMIM Phenotype]
- autosomal dominant osteopetrosis 1 [DO Concept]
- osteopetrosis autosomal dominant type 1 [MeSH Supplementary Concept]

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