loading...| Preferred Name |
Severe Congenital Neutropenia |
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| Synonyms |
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| Definitions |
A congenital disorder characterized by chronic neutropenia with absolute neutrophil count less than 500/uL and arrest of neutrophil maturation at the promyelocyte/myelocyte level. It is inherited in autosomal recessive or autosomal dominant patterns. Sporadic cases have also been reported. It is usually diagnosed in the first year of life. Patients present with frequent and life-threatening infections. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C166152 |
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| code |
C166152 |
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| Contributing_Source |
CTRP |
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| definition |
A congenital disorder characterized by chronic neutropenia with absolute neutrophil count less than 500/uL and arrest of neutrophil maturation at the promyelocyte/myelocyte level. It is inherited in autosomal recessive or autosomal dominant patterns. Sporadic cases have also been reported. It is usually diagnosed in the first year of life. Patients present with frequent and life-threatening infections. |
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| Display_Name |
Severe Congenital Neutropenia |
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| in_subset | ||
| label |
Severe Congenital Neutropenia |
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| Preferred_Name |
Severe Congenital Neutropenia |
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| prefixIRI |
NCIT:C166152 |
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| prefLabel |
Severe Congenital Neutropenia |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C4227896 |
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| subClassOf |