Osteogenesis imperfecta type 1

Preferred Label : Osteogenesis imperfecta type 1;

ICD-11 definition : Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. OI type I is nondeforming with normal height or mild short stature, blue sclera, and no dentinogenesis imperfecta (DI).;

ICD-11 synonym : Eddowes syndrome; Adair Dighton syndrome; van der Hoeve-de Kleyn syndrome; Lobstein syndrome; Spurway syndrome; Ekman syndrome; Ekman-Lobstein syndrome; Spurway-Eddowes syndrome; van der Hoeve syndrome;

Details

Origin ID

1897905410;

Currated CISMeF NLP mapping
- Brittle bone disease [MedDRA LLT]
- Osteogenesis Imperfecta [NCIt concept]
- Osteogenesis Imperfecta Type I [NCIt concept]
- Osteogenesis Imperfecta, type I [OMIM Phenotype]
- Osteogenesis imperfecta [OMIM phenotypic series]
- Osteogenesis imperfecta [MedDRA Preferred Term]
- Osteogenesis imperfecta [PASCAL descriptor]
- Osteogenesis imperfecta [ICD-9 code]
- Osteogenesis imperfecta [ICD-10 Sub-category (who)]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta [ICD-10 Sub-category]
- Osteogenesis imperfecta (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta type 1 [ORDO Disease]
- Osteogenesis imperfecta type I (disorder) [SNOMED CT concept]
- osteogenesis imperfecta [MeSH Descriptor]
- osteogenesis imperfecta [DO Concept]
- osteogenesis imperfecta [Disease (Nov.)]
- osteogenesis imperfecta [Radlex concept]
- osteogenesis imperfecta [MedlinePlus Topic]
- osteogenesis imperfecta type 1 [DO Concept]
- osteogenesis imperfecta with blue sclerae [SNOMED Notion]
- osteogenesis imperfecta, nos [SNOMED Notion]
- van der Hoeve syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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