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). |
|
ID |
http://www.orpha.net/ORDO/Orphanet_39041 |
|
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 |
|
expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39041 |
|
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 |
|
label |
Omenn syndrome |
|
notation |
ORPHA:39041 |
|
part_of | ||
prefixIRI |
ORDO:Orphanet_39041 |
|
prefLabel |
Omenn syndrome |
|
present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 25.0 (Case) |
|
treeView | ||
subClassOf |