osteopetrosis autosomal dominant type 1

Preferred Label : osteopetrosis autosomal dominant type 1;

MeSH note : mutationin LRP5;

MeSH synonym : osteopetrosis, autosomal dominant, type I; osteopetrosis, autosomal dominant 1;

Détails

Origin ID

C536056;

UMLS CUI

C1843330;

Currated CISMeF NLP mapping
- Autosomal dominant osteopetrosis type 1 [ICD-11 More detail]
- Autosomal dominant osteopetrosis type 1 [ORDO Disease]
- Autosomal dominant osteopetrosis type 1 (disorder) [SNOMED CT concept]
- Osteopetrosis, autosomal dominant 1 [OMIM Phenotype]
- autosomal dominant osteopetrosis 1 [DO Concept]
DO Cross reference
- autosomal dominant osteopetrosis 1 [DO Concept]
MeSH term(s) associated for indexing
- osteopetrosis [MeSH Descriptor]
ORDO relation(s)
- Autosomal dominant osteopetrosis type 1 [ORDO Disease]
Record concept(s)
- Osteopetrosis autosomal dominant type 1 [MeSH 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 [ICD-11 More detail]
- Autosomal dominant osteopetrosis type 1 (disorder) [SNOMED CT concept]
- Osteopetrosis, autosomal dominant 1 [OMIM Phenotype]
- autosomal dominant osteopetrosis 1 [DO Concept]

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