osteogenesis imperfecta

Preferred Label : osteogenesis imperfecta;

MeSH definition : 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.;

MeSH synonym : fragilitas ossium; ossiums, fragilitas; brittle bone disease;

MeSH hyponym : lobstein's disease; Disease, Lobstein's; Lobsteins Disease; Osteogenesis Imperfecta, Type I; Osteogenesis Imperfecta with Blue Sclerae; Osteogenesis Imperfecta, Type 1; Lobstein Disease; Disease, Lobstein; Osteogenesis Imperfecta Tarda; Osteogenesis Imperfecta Tardas;

Wikipedia link : https://en.wikipedia.org/wiki/Osteogenesis imperfecta;

Details

Origin ID

D010013;

UMLS CUI

C0029434;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Brittle bone disease [MedDRA LLT]
- Osteogenesis Imperfecta [NCIt concept]
- Osteogenesis Imperfecta Type I [NCIt concept]
- Osteogenesis imperfecta [ICD-10 Sub-category]
- Osteogenesis imperfecta [PASCAL descriptor]
- Osteogenesis imperfecta [ICD-11 Sub-sub category]
- Osteogenesis imperfecta [ICD-10 Sub-category (who)]
- Osteogenesis imperfecta [MedDRA Preferred Term]
- Osteogenesis imperfecta [OMIM phenotypic series]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ICD-9 code]
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta type 1 [ICD-11 More detail]
- Osteogenesis imperfecta type 1 [ORDO Disease]
- osteogenesis imperfecta [DO Concept]
- osteogenesis imperfecta [Disease (Nov.)]
- osteogenesis imperfecta [MedlinePlus Topic]
- osteogenesis imperfecta [Radlex concept]
- osteogenesis imperfecta with blue sclerae [SNOMED Notion]
- osteogenesis imperfecta, nos [SNOMED Notion]
DO Cross reference
- osteogenesis imperfecta [DO Concept]
- osteogenesis imperfecta type 1 [DO Concept]
False automatic mappings
- Contact with health services for ovulation induction [ICD-11 Sub-sub category]
- Independent of (attribute) [SNOMED CT concept]
- Non-host Organism Identifiers Domain [NCIt concept]
- Opportunistic Infection [NCIt concept]
- Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
Manual BTNT mappings - CISMeF
- Osteogenesis imperfecta type 2 [ORDO Disease]
- Osteogenesis imperfecta type 3 [ORDO Disease]
- Osteogenesis imperfecta type 4 [ORDO Disease]
- Osteogenesis imperfecta type 5 [ORDO Disease]
- Osteogenesis imperfecta type I (disorder) [SNOMED CT concept]
Manual NTBT mappings (CISMeF)
- Primary bone dysplasia with decreased bone density [ORDO Disease]
MedlinePlus topic(s)
- osteogenesis imperfecta [MedlinePlus Topic]
ORDO relation(s)
- Osteogenesis imperfecta [ORDO Disease]
Record concept(s)
- lobstein's disease [MeSH concept]
- osteogenesis imperfecta [MeSH concept]
Related MeSH Supplementary Concept(s)
- Al Gazali Sabrinathan Nair syndrome [MeSH Supplementary Concept]
- Astley-Kendall syndrome [MeSH Supplementary Concept]
- OI-EDS Combined Syndrome [MeSH Supplementary Concept]
- Osteogenesis Imperfecta, Type IV [MeSH Supplementary Concept]
- bruck syndrome 1 [MeSH Supplementary Concept]
- bruck syndrome 2 [MeSH Supplementary Concept]
- cole carpenter syndrome [MeSH Supplementary Concept]
- grant syndrome [MeSH Supplementary Concept]
- lowry maclean syndrome [MeSH Supplementary Concept]
- osteogenesis imperfecta congenita, microcephaly, and cataracts [MeSH Supplementary Concept]
- osteogenesis imperfecta type VII [MeSH Supplementary Concept]
- osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures [MeSH Supplementary Concept]
- osteogenesis imperfecta, levin type [MeSH Supplementary Concept]
- osteogenesis imperfecta, type 1A [MeSH Supplementary Concept]
- osteogenesis imperfecta, type 2A [MeSH Supplementary Concept]
- osteogenesis imperfecta, type 2B [MeSH Supplementary Concept]
- osteogenesis imperfecta, type 3 [MeSH Supplementary Concept]
- osteogenesis imperfecta, type 6 [MeSH Supplementary Concept]
- osteogenesis imperfecta, type IX [MeSH Supplementary Concept]
- osteogenesis imperfecta, type V [MeSH Supplementary Concept]
- osteogenesis imperfecta, type VIII [MeSH Supplementary Concept]
- osteopenic nonfracture syndrome [MeSH Supplementary Concept]
- osteoporosis-pseudoglioma syndrome [MeSH Supplementary Concept]
See also
- collagen type I [MeSH Descriptor]
- dentinogenesis imperfecta [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brittle bone disease [MedDRA LLT]
- Osteogenesis Imperfecta [NCIt concept]
- Osteogenesis imperfecta [MedDRA Preferred Term]
- Osteogenesis imperfecta [ICD-9 code]
- Osteogenesis imperfecta [ICD-10 Sub-category]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ACR pathology]
- Osteogenesis imperfecta [ICD-10 Sub-category (who)]
- Osteogenesis imperfecta [PASCAL descriptor]
- Osteogenesis imperfecta [ICD-11 Sub-sub category]
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta (disorder) [SNOMED CT concept]
- osteogenesis imperfecta [Radlex concept]
- osteogenesis imperfecta [DO Concept]
- osteogenesis imperfecta [Disease (Nov.)]
- osteogenesis imperfecta [MedlinePlus Topic]
- osteogenesis imperfecta, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Osteogenesis Imperfecta, type I [OMIM Phenotype]
- osteogenesis imperfecta type 1 [DO Concept]
- van der Hoeve syndrome [Disease (Nov.)]

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