loading...| Preferred Name |
Omenn syndrome |
|
| Synonyms |
Combined immunodeficiency with hypereosinophilia |
|
| Definitions |
Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term). |
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| ID |
http://www.orpha.net/ORDO/Orphanet_39041 |
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| alternative_term |
Combined immunodeficiency with hypereosinophilia |
|
| definition |
Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term). |
|
| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39041 |
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| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
OMIM:603554 ICD-10:D81.8 MedDRA:10069097 UMLS:C2700553 ICD-11:4A01.10 |
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| label |
Omenn syndrome |
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| notation |
ORPHA:39041 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_39041 |
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| prefLabel |
Omenn syndrome |
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| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 25.0 (Case) |
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| treeView | ||
| subClassOf |