Osteogenesis Imperfecta Type II

Preferred Label : Osteogenesis Imperfecta Type II;

NCIt definition : A severe form of osteogenesis imperfecta. It is characterized by bone deformities, multiple fractures, underdeveloped lungs, and often death during or after birth due to respiratory abnormalities.;

Details

Origin ID

C99001;

UMLS CUI

C0268358;

Currated CISMeF NLP mapping
- Osteogenesis imperfecta type 2 [ORDO Disease]
- Osteogenesis imperfecta type II (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta, type II [OMIM Phenotype]
- osteogenesis imperfecta type 2 [DO Concept]
- osteogenesis imperfecta type II [Disease (Nov.)]
- osteogenesis imperfecta, perinatal lethal [SNOMED Notion]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteogenesis imperfecta type 2 [ORDO Disease]
- Osteogenesis imperfecta type II (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta type IIA (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta, dominant perinatal lethal (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta, type 2A [MeSH concept]
- Osteogenesis imperfecta, type II [OMIM Phenotype]
- osteogenesis imperfecta type 2 [DO Concept]
- osteogenesis imperfecta type II [Disease (Nov.)]
- osteogenesis imperfecta type IIA [Disease (Nov.)]
- osteogenesis imperfecta, dominant perinatal lethal [SNOMED Notion]
- osteogenesis imperfecta, perinatal lethal [SNOMED Notion]
- osteogenesis imperfecta, type 2A [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- osteogenesis imperfecta, type 2A [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [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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