| Descriptor English: | Osteogenesis Imperfecta | ||||||
| Descriptor Spanish: |
Osteogénesis Imperfecta
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| Descriptor Portuguese: | Osteogênese Imperfeita | ||||||
| Descriptor French: | Ostéogenèse imparfaite | ||||||
| Entry term(s): |
Brittle Bone Disease Disease, Lobstein Disease, Lobstein's Fragilitas Ossium Lobstein Disease Lobstein's Disease Lobsteins Disease Ossiums, Fragilitas Osteogenesis Imperfecta Tarda Osteogenesis Imperfecta Tardas Osteogenesis Imperfecta with Blue Sclerae Osteogenesis Imperfecta, Type 1 Osteogenesis Imperfecta, Type I |
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| Tree number(s): |
C05.116.099.708.685 C16.320.737 C17.300.200.540 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D010013 | ||||||
| Scope note: | COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Related: |
Collagen Type I
MeSH Dentinogenesis Imperfecta MeSH | ||||||
| DeCS ID: | 10192 | ||||||
| Unique ID: | D010013 | ||||||
| NLM Classification: | WE 250 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1966/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2013/07/08 |
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Osteogenesis Imperfecta
- Preferred
Lobstein's Disease
- Narrower
| Concept UI |
M0015534 |
| Scope note | COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I. |
| Preferred term | Osteogenesis Imperfecta |
| Entry term(s) |
Brittle Bone Disease Fragilitas Ossium Ossiums, Fragilitas |
| Concept UI |
M0015533 |
| Preferred term | Lobstein's Disease |
| Entry term(s) |
Disease, Lobstein Disease, Lobstein's Lobstein Disease Lobsteins Disease Osteogenesis Imperfecta Tarda Osteogenesis Imperfecta Tardas Osteogenesis Imperfecta with Blue Sclerae Osteogenesis Imperfecta, Type 1 Osteogenesis Imperfecta, Type I |
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