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Osteogenesis Imperfecta Type I (CUI C0023931) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0023931

NCI Thesaurus Code: C99003  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: The mildest and most common type of osteogenesis imperfecta. It is characterized by bone fractures, muscle weakness, and loose joints. Bone deformities are either absent or minimal.

GARD Definition: Osteogenesis imperfecta (OI) is a genetic disorder that mainly affects the bones. Osteogenesis imperfecta type 1 is the mildest form of OI and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood. Affected individuals are usually of normal or near normal height. Most of the mutations that cause osteogenesis imperfecta type 1 occur in the COL1A1 gene. These genetic changes reduce the amount of type I collagen produced in the body, which causes bones to be brittle and to fracture easily. OI type 1 exhibits an autosomal dominant pattern of inheritance. - this information is from GARD/ORDR/NCATS.

Synonyms & Abbreviations: (see Synonym Details)
Disease, Lobstein's
Disease, Lobstein
Lobstein disease
LOBSTEIN DIS
Lobstein's Disease
Lobsteins Disease
LOBSTEINS DIS
Mild osteogenesis imperfecta
Non-deforming osteogenesis imperfecta
OI type 1
OI, TYPE I
OI1
Osteogenesis Imperfecta Tardas
Osteogenesis imperfecta tarda
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type I (disorder)
Osteogenesis Imperfecta Type I
Osteogenesis imperfecta with blue sclerae
Osteogenesis Imperfecta, Type 1
Osteogenesis Imperfecta, Type I
van de Hoeve syndrome

External Source Codes: 
NCI Thesaurus Code C99003 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID XUWQe SNOMEDCT_US
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
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 31390 GARD
DISEASE_IDENTIFIER_ID 31391 GARD
DISEASE_IDENTIFIER_ID 33550 GARD
DISEASE_IDENTIFIER_ID 7880 GARD
DISEASE_IDENTIFIER_ID 7881 GARD
DISEASE_IDENTIFIER_ID 7882 GARD
EFFECTIVE_TIME 20030131 SNOMEDCT_US
GENELOCUS ,1,7,q,2,1,.,3,1,-,q,2,2, OMIM
GENESYMBOL COL1A1 OMIM
GENESYMBOL EDSC OMIM
GENESYMBOL OI1 OMIM
GENESYMBOL OI2 OMIM
GENESYMBOL OI3 OMIM
GENESYMBOL OI4 OMIM
HAS_GARD_PAGE true GARD
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-11-10T00:00:00 GARD
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MOVED_FROM 166240 OMIM
NICHD_Hierarchy_Term Osteogenesis Imperfecta Type I NCI
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/8694/osteogenesis-imperfecta-type-1/resources/1 GARD
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 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF OSTEOGENESIS IMPERFECTA WITH BLUE SCLERAE AND DENTINOGENESIS IMPERFECTA CHOOSE K00.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF OSTEOGENESIS IMPERFECTA WITH BLUE SCLERAE AND DENTINOGENESIS IMPERFECTA CHOOSE Q13.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF OSTEOGENESIS IMPERFECTA WITH BLUE SCLERAE AND NORMAL TEETH CHOOSE Q13.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447638001 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 63890001 | Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 64404003 | Osteogenesis imperfecta with blue sclerae AND normal teeth | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~K00.5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q13.5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q78.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~ SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUWQe 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 T029639 MSH
TERMUI T029640 MSH
TERMUI T781826 MSH
TERMUI T781827 MSH
TERMUI T781828 MSH
TERMUI T811717 MSH
TH NLM (2012) MSH
TH OMIM (2013) MSH
TH ORD (2010) 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=C0023931

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