Osteogenesis Imperfecta Type III

Preferred Label : Osteogenesis Imperfecta Type III;

NCIt definition : A type of osteogenesis imperfecta characterized by bone fractures, bone deformities, short stature, poor muscle development, barrel-shaped chest, and triangular face.;

Details

Origin ID

C99002;

UMLS CUI

C0268362;

Currated CISMeF NLP mapping
- Osteogenesis imperfecta type 3 [ORDO Disease]
- Osteogenesis imperfecta type III (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta, type 3 [MeSH concept]
- Osteogenesis imperfecta, type III [OMIM Phenotype]
- osteogenesis imperfecta type 3 [DO Concept]
- osteogenesis imperfecta type III [Disease (Nov.)]
- osteogenesis imperfecta with progressive deformity and normal sclerae [SNOMED Notion]
- osteogenesis imperfecta, type 3 [MeSH Supplementary Concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective Tissue [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)
- Osteogenesis imperfecta type 3 [ORDO Disease]
- Osteogenesis imperfecta type III (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta, type 3 [MeSH concept]
- Osteogenesis imperfecta, type III [OMIM Phenotype]
- osteogenesis imperfecta type 3 [DO Concept]
- osteogenesis imperfecta type III [Disease (Nov.)]
- osteogenesis imperfecta with progressive deformity and normal sclerae [SNOMED Notion]
- osteogenesis imperfecta, type 3 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
disease_mapped_to_gene
- COL1A1 Gene [NCIt concept]
- COL1A2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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