Osteogenesis imperfecta

ICD-11 code : LD24.K0;

Preferred Label : Osteogenesis imperfecta;

ICD-11 definition : Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity. The most clinically relevant characteristic of all types of OI is bone fragility, which manifests as multiple spontaneous fractures.;

ICD-11 synonym : OI - [osteogenesis imperfecta]; Osteopsathyrosis; brittle bone disease; brittle bone syndrome; bony fragility; ossium fragility; Fragilitas ossium; osteitis fragilitans;

ICD-11 acronym : OI;

ICD-11 inclusion : white blue sclera - fragility of bone - deafness; blue; sclera with with fragility of bone and deafness; Fragilitas ossium; Osteopsathyrosis;

Details

Origin ID

1219932551;

UMLS CUI

C0029434;

Automatic exact mappings (from CISMeF team)
- Independent of (attribute) [SNOMED CT concept]
- Non-host Organism Identifiers Domain [NCIt concept]
- Opportunistic Infection [NCIt concept]
Currated CISMeF NLP mapping
- Brittle bone disease [MedDRA LLT]
- Osteogenesis Imperfecta [NCIt concept]
- Osteogenesis Imperfecta Type I [NCIt concept]
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta [PASCAL descriptor]
- Osteogenesis imperfecta [ICD-9 code]
- Osteogenesis imperfecta [MedDRA Preferred Term]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ICD-10 Sub-category]
- Osteogenesis imperfecta [OMIM phenotypic series]
- Osteogenesis imperfecta [ICD-10 Sub-category (who)]
- Osteogenesis imperfecta (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta type 1 [ORDO Disease]
- osteogenesis imperfecta [Radlex concept]
- osteogenesis imperfecta [MeSH Descriptor]
- osteogenesis imperfecta [MeSH concept]
- osteogenesis imperfecta [DO Concept]
- osteogenesis imperfecta [MedlinePlus Topic]
- osteogenesis imperfecta [Disease (Nov.)]
- osteogenesis imperfecta with blue sclerae [SNOMED Notion]
- osteogenesis imperfecta, nos [SNOMED Notion]
ICD-10 Mapping
- Osteogenesis imperfecta [ICD-10 Sub-category]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brittle bone disease [MedDRA LLT]
- Osteogenesis Imperfecta [NCIt concept]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ICD-9 code]
- Osteogenesis imperfecta [ICD-10 Sub-category]
- Osteogenesis imperfecta [MedDRA Preferred Term]
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta [PASCAL descriptor]
- Osteogenesis imperfecta (disorder) [SNOMED CT concept]
- osteogenesis imperfecta [DO Concept]
- osteogenesis imperfecta [MedlinePlus Topic]
- osteogenesis imperfecta [MeSH Descriptor]
- osteogenesis imperfecta [MeSH concept]
- osteogenesis imperfecta [Disease (Nov.)]
- osteogenesis imperfecta [Radlex concept]
- osteogenesis imperfecta, nos [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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