loading...| Preferred Name |
Hereditary spherocytosis |
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| Synonyms |
Minkowski-Chauffard disease |
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| Definitions |
Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_822 |
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| alternative_term |
Minkowski-Chauffard disease |
|
| definition |
Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis. |
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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=822 |
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| has_age_of_onset |
All ages |
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| has_inheritance |
Autosomal recessive Autosomal dominant |
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| hasDbXref |
ICD-10:D58.0 OMIM:612690 MedDRA:10019904 OMIM:616649 OMIM:182900 MeSH:D013103 UMLS:C0037889 ICD-11:3A10.Y OMIM:270970 OMIM:612653 |
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| label |
Hereditary spherocytosis |
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| notation |
ORPHA:822 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_822 |
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| prefLabel |
Hereditary spherocytosis |
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| present_in |
Germany AND has_point_prevalence_average_value : 50.0 AND has_point_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 20.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 |
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| treeView | ||
| subClassOf |