Osteogenesis Imperfecta

Preferred Label : Osteogenesis Imperfecta;

NCIt definition : A group of usually autosomal dominant inherited disorders characterized by defective synthesis of collagen type I resulting in defective collagen formation. It is characterized by brittle and easily fractured bones.;

Details

Origin ID

C26837;

UMLS CUI

C0029434;

Currated CISMeF NLP mapping
- Brittle bone disease [MedDRA LLT]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ICD-10 Sub-category]
- Osteogenesis imperfecta [PASCAL descriptor]
- Osteogenesis imperfecta [ICD-11 Sub-sub category]
- Osteogenesis imperfecta [ICD-9 code]
- Osteogenesis imperfecta [OMIM phenotypic series]
- Osteogenesis imperfecta [ICD-10 Sub-category (who)]
- Osteogenesis imperfecta [MedDRA Preferred Term]
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta type 1 [ORDO Disease]
- Osteogenesis imperfecta type 1 [ICD-11 More detail]
- osteogenesis imperfecta [DO Concept]
- osteogenesis imperfecta [Disease (Nov.)]
- osteogenesis imperfecta [MedlinePlus Topic]
- osteogenesis imperfecta [MeSH Descriptor]
- osteogenesis imperfecta [MeSH concept]
- osteogenesis imperfecta [Radlex concept]
- osteogenesis imperfecta with blue sclerae [SNOMED Notion]
- osteogenesis imperfecta, nos [SNOMED Notion]
DO Cross reference
- osteogenesis imperfecta [DO Concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brittle bone disease [MedDRA LLT]
- Osteogenesis imperfecta [MedDRA Preferred Term]
- Osteogenesis imperfecta [ICD-9 code]
- Osteogenesis imperfecta [ICD-10 Sub-category]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [PASCAL descriptor]
- Osteogenesis imperfecta [ICD-11 Sub-sub category]
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta [ICD-10 Sub-category (who)]
- Osteogenesis imperfecta (disorder) [SNOMED CT concept]
- osteogenesis imperfecta [Radlex concept]
- osteogenesis imperfecta [DO Concept]
- osteogenesis imperfecta [Disease (Nov.)]
- osteogenesis imperfecta [MeSH concept]
- osteogenesis imperfecta [MedlinePlus Topic]
- osteogenesis imperfecta [MeSH Descriptor]
- osteogenesis imperfecta, nos [SNOMED Notion]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_associated_gene
- COL1A1 Gene [NCIt concept]
- COL1A1 wt Allele [NCIt concept]
- COL1A2 Gene [NCIt concept]
- COL1A2 wt Allele [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]

Keyword's position in hierarchy(ies) :

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