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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99001
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99001
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Preferred Name | Osteogenesis Imperfecta Type II |
Definitions |
A severe form of osteogenesis imperfecta. It is characterized by bone deformities, multiple fractures, underdeveloped lungs, and often death during or after birth due to respiratory abnormalities.
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Synonyms |
Osteogenesis Imperfecta Type II
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
label |
Osteogenesis Imperfecta Type II
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Preferred_Name |
Osteogenesis Imperfecta Type II
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Semantic_Type |
Disease or Syndrome
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prefixIRI |
Thesaurus:C99001
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DEFINITION |
A severe form of osteogenesis imperfecta. It is characterized by bone deformities, multiple fractures, underdeveloped lungs, and often death during or after birth due to respiratory abnormalities.
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UMLS_CUI |
C0268358
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code |
C99001
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subClassOf | |
type | |
FULL_SYN |
Osteogenesis Imperfecta Type II
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Contributing_Source |
Cellosaurus
NICHD
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Concept_In_Subset |
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