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Osteogenesis Imperfecta (CUI C0029434) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0029434

NCI Thesaurus Code: C26837  (see NCI Thesaurus info)

Semantic Type: Congenital Abnormality

Semantic Type: Disease or Syndrome

NCIt Definition: A group of usually autosomal dominant inherited disorders characterized by defective synthesis of collagen type I resulting in defective collagen formation. It is characterized by brittle and easily fractured bones.

GARD Definition: Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime. There are at least eight recognized forms of osteogenesis imperfecta, designated type I through type VIII. The types can be distinguished by their signs and symptoms, as well as by genetic factors. Depending on the genetic cause, OI may be inherited in an autosomal dominant (more commonly) or autosomal recessive pattern. - this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Sometimes the bones break for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. OI is caused by one of several genes that aren't working properly. When these genes don't work, it affects how you make collagen, a protein that helps make bones strong.

OI can range from mild to severe, and symptoms vary from person to person. A person may have just a few or as many as several hundred fractures in a lifetime.

No single test can identify OI. Your doctor uses your medical and family history, physical exam, and imaging and lab tests to diagnose it. Your doctor may also test your collagen (from skin) or genes (from blood). There is no cure, but you can manage symptoms. Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces, and surgery.

NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

CSP Definition: autosomal dominant collagen disease resulting from defective biosynthesis of collagen type I and characterized by brittle, osteoporotic, and easily fractured bones; may also present with blue sclerae, loose joints, and imperfect dentin formation.

MSH 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.

Synonyms & Abbreviations: (see Synonym Details)
Adair-Dighton syndrome
brittle bone disease
Brittle bone syndrome
Fragilitas ossium
Glass bone disease
OI - Osteogenesis imperfecta
OI
Ossiums, Fragilitas
Osteogenesis imperfecta (disorder)
Osteogenesis Imperfecta [Disease/Finding]
Osteogenesis Imperfecta
OSTEOPSATHYROSIS
Porak and Durante disease
Van der Hoeve syndrome
Vrolik disease

External Source Codes: 
NCI Thesaurus Code C26837 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID XE1MD SNOMEDCT_US
DATE_CREATED 11/17/1999 MEDLINEPLUS
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-7175 CSP
DISEASE_IDENTIFIER_ID 31389 GARD
DISEASE_IDENTIFIER_ID 31392 GARD
DISEASE_IDENTIFIER_ID 33547 GARD
DISEASE_IDENTIFIER_ID 33548 GARD
DISEASE_IDENTIFIER_ID 33549 GARD
DISEASE_IDENTIFIER_ID 33551 GARD
DISEASE_IDENTIFIER_ID 33552 GARD
DISEASE_IDENTIFIER_ID 33553 GARD
DISEASE_IDENTIFIER_ID 7688 GARD
DISEASE_IDENTIFIER_ID 7689 GARD
DISEASE_IDENTIFIER_ID 7690 GARD
DISEASE_IDENTIFIER_ID 7691 GARD
DX 19660101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D003811 MSH
FX D024042 MSH
HAS_GARD_PAGE true GARD
IAN DEFAULT ICD10
ICE Fragilitas ossium; Osteopsathyrosis ICD9CM
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
INCLUSION_TERM Fragilitas ossium ICD10
INCLUSION_TERM Osteopsathyrosis ICD10
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2007-01-19T00:00:00 GARD
MDA 19990101 MSH
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. NDFRT
MESH_DUI D010013 NDFRT
MESH_NAME Osteogenesis Imperfecta NDFRT
MESH_UI M0015534 NDFRT
MMR 20130708 MSH
MN C05.116.099.708.685 MSH
MN C16.320.737 MSH
MN C17.300.200.540 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/osteogenesisimperfecta.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/osteogenesisimperfecta.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Arthritis and Musculoskeletal and Skin Diseases http://www.niams.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Osteogenesis Imperfecta NCI
NUI N0000002250 NDFRT
ORDER_NO 28042 ICD10CM
PRIMARY_PATH 10031243$10029509$10028396$10010331$Osteogenesis imperfecta$Non-site specific bone disorders congenital$Musculoskeletal and connective tissue disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/1017/osteogenesis-imperfecta/resources/1 GARD
RXAUI 3161579 RXNORM
RXAUI 3210953 RXNORM
RXAUI 3210954 RXNORM
RXAUI 5930397 RXNORM
RXCUI 1023084 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 78314001 NDFRT
SNOMEDID D6-90500 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q78.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q78.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q78.0 | DESCENDANTS NOT EXHAUSTIVELY MAPPED SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q78.0 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XE1MD SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D6-90500 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T029641 MSH
TERMUI T029642 MSH
TERMUI T842214 MSH
TH GHR (2014) MSH
TH NLM (1966) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0029434

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