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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Preferred Name | Niemann-Pick Disease | |
| Synonyms |
Niemann-Pick Disease Sphingomyelin/Cholesterol Lipidosis |
|
| Definitions |
An autosomal recessive inherited lysosomal storage disease characterized by deficiency of sphingomyelinase. It results in the accumulation of sphingomyelin in the liver, spleen, brain, lungs, and bone marrow. Signs and symptoms include hepatosplenomegaly, pancytopenia, ataxia, dystonia, and dementia. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61269 |
|
| code |
C61269
|
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 |
|
| Contributing_Source |
Cellosaurus CTRP NICHD
|
|
| DEFINITION |
An autosomal recessive inherited lysosomal storage disease characterized by deficiency of sphingomyelinase. It results in the accumulation of sphingomyelin in the liver, spleen, brain, lungs, and bone marrow. Signs and symptoms include hepatosplenomegaly, pancytopenia, ataxia, dystonia, and dementia.
|
|
| Display_Name |
Niemann-Pick Disease
|
|
| FULL_SYN |
Niemann-Pick Disease Sphingomyelin/Cholesterol Lipidosis
|
|
| label |
Niemann-Pick Disease
|
|
| Legacy Concept Name |
Niemann-Pick_Disease
|
|
| Preferred_Name |
Niemann-Pick Disease
|
|
| prefixIRI |
Thesaurus:C61269
|
|
| Semantic_Type |
Disease or Syndrome
|
|
| UMLS_CUI |
C0028064
|
|
| subClassOf |
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