osteogenesis imperfecta, type 2A

Preferred Label : osteogenesis imperfecta, type 2A;

MeSH synonym : osteogenesis imperfecta congenita, perinatal lethal form; vrolik type of osteogenesis imperfecta; osteogenesis imperfecta congenita; osteogenesis imperfecta, type IIA; vrolik disease; OI, type 2A Osteogenesis imperfecta, type 2A; OI, type IIA Osteogenesis imperfecta, type IIA; OI2A Osteogenesis imperfecta 2A;

Details

Origin ID

C536042;

UMLS CUI

C0268358;

Automatic exact mappings (from CISMeF team)
- Osteogenesis imperfecta type 2 [ICD-11 More detail]
- Osteogenesis imperfecta, recessive perinatal lethal (disorder) [SNOMED CT concept]
- osteogenesis imperfecta [DO Concept]
- osteogenesis imperfecta type 2 [DO Concept]
Currated CISMeF NLP mapping
- osteogenesis imperfecta type IIA [Disease (Nov.)]
MeSH term(s) associated for indexing
- osteogenesis imperfecta [MeSH Descriptor]
Record concept(s)
- Osteogenesis imperfecta, type 2A [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteogenesis Imperfecta Type II [NCIt 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 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]
Validated automatic mappings to NTBT
- Osteogenesis Imperfecta Type II [NCIt 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, type II [OMIM Phenotype]

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