Osteogenesis Imperfecta Type IV

Preferred Label : Osteogenesis Imperfecta Type IV;

NCIt definition : A type of osteogenesis imperfecta that is characterized by fractures and hearing loss. It is more severe than type I and less severe than types II and III.;

Détails

Origin ID

C98576;

UMLS CUI

C0268363;

Automatic exact mappings (from CISMeF team)
- Osteogenesis Imperfecta, Type IV [MeSH concept]
- Osteogenesis imperfecta, type IV A (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Osteogenesis Imperfecta, Type IV [MeSH Supplementary Concept]
- Osteogenesis imperfecta type 4 [ORDO Disease]
- Osteogenesis imperfecta type IV (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta, type iv [OMIM Phenotype]
- osteogenesis imperfecta type 4 [DO Concept]
- osteogenesis imperfecta type IV [Disease (Nov.)]
- osteogenesis imperfecta with normal sclerae, dominant form [SNOMED Notion]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective Tissue [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 IV [MeSH Supplementary Concept]
- Osteogenesis imperfecta type 4 [ORDO Disease]
- Osteogenesis imperfecta type IV (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta, type iv [OMIM Phenotype]
- osteogenesis imperfecta type 4 [DO Concept]
- osteogenesis imperfecta type IV [Disease (Nov.)]
- osteogenesis imperfecta with normal sclerae, dominant form [SNOMED Notion]
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]

Position du mot-clé dans l'(les) arborescence(s) :

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