loading...| Preferred Name |
Autosomal dominant severe congenital neutropenia |
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| Synonyms |
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| Definitions |
A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_486 |
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| definition |
A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=486 |
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| has_age_of_onset |
Infancy Neonatal |
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| has_inheritance |
Autosomal dominant |
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| hasDbXref |
OMIM:257100 UMLS:C4749612 OMIM:202700 OMIM:613107 ICD-11:4B00.00 OMIM:619813 ICD-10:D70 |
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| label |
Autosomal dominant severe congenital neutropenia |
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| notation |
ORPHA:486 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_486 |
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| prefLabel |
Autosomal dominant severe congenital neutropenia |
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| present_in |
Europe AND has_point_prevalence_range : <1 / 1 000 000 |
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| treeView | ||
| subClassOf |