Osteogenesis Imperfecta Type I

Preferred Label : Osteogenesis Imperfecta Type I;

NCIt definition : The mildest and most common type of osteogenesis imperfecta. It is characterized by bone fractures, muscle weakness, and loose joints. Bone deformities are either absent or minimal.;

Details

Origin ID

C99003;

UMLS CUI

C0023931;

Currated CISMeF NLP mapping
- Brittle bone disease [MedDRA LLT]
- Osteogenesis Imperfecta, type I [OMIM Phenotype]
- Osteogenesis imperfecta [OMIM phenotypic series]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ICD-10 Sub-category (who)]
- Osteogenesis imperfecta [PASCAL descriptor]
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta [MedDRA Preferred Term]
- Osteogenesis imperfecta [ICD-10 Sub-category]
- Osteogenesis imperfecta [ICD-11 Sub-sub category]
- Osteogenesis imperfecta [ICD-9 code]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta type 1 [ORDO Disease]
- Osteogenesis imperfecta type 1 [ICD-11 More detail]
- Osteogenesis imperfecta type I (disorder) [SNOMED CT concept]
- osteogenesis imperfecta [MeSH Descriptor]
- osteogenesis imperfecta [Disease (Nov.)]
- osteogenesis imperfecta [Radlex concept]
- osteogenesis imperfecta [MedlinePlus Topic]
- osteogenesis imperfecta [DO Concept]
- osteogenesis imperfecta type 1 [DO Concept]
- osteogenesis imperfecta with blue sclerae [SNOMED Notion]
- osteogenesis imperfecta, nos [SNOMED Notion]
- van der Hoeve syndrome [Disease (Nov.)]
DO Cross reference
- osteogenesis imperfecta type 1 [DO Concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
See also inter- (CISMeF)
- lobstein's disease [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteogenesis Imperfecta, type I [OMIM Phenotype]
- Osteogenesis imperfecta type I (disorder) [SNOMED CT concept]
- lobstein's disease [MeSH concept]
- osteogenesis imperfecta type 1 [DO Concept]
- osteogenesis imperfecta with blue sclerae [SNOMED Notion]
- van der Hoeve syndrome [Disease (Nov.)]
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]
disease_mapped_to_gene
- COL1A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients