Preferred Name |
hereditary spherocytosis |
|
Synonyms |
spherocytic anemia spherocytic anaemia congenital spherocytic hemolytic anaemia hereditary spherocytosis Minkowski Chauffard syndrome Minkowski-Chauffard disease congenital spherocytic hemolytic anemia congenital spherocytosis |
|
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. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0019350 |
|
closeMatch | ||
database_cross_reference |
ICD9:282.0 ICD10CM:D58.0 NCIT:C97074 MESH:D013103 MedDRA:10019904 NORD:777 Orphanet:822 UMLS:C0037889 SCTID:55995005 GARD:6639 DOID:12971 |
|
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. |
|
exactMatch |
http://identifiers.org/snomedct/55995005 http://identifiers.org/mesh/D013103 http://purl.obolibrary.org/obo/DOID_12971 http://purl.bioontology.org/ontology/ICD10CM/D58.0 http://purl.obolibrary.org/obo/NCIT_C97074 |
|
has_exact_synonym |
spherocytic anemia spherocytic anaemia congenital spherocytic hemolytic anaemia hereditary spherocytosis Minkowski Chauffard syndrome Minkowski-Chauffard disease congenital spherocytic hemolytic anemia |
|
has_related_synonym |
congenital spherocytosis |
|
id |
MONDO:0019350 |
|
in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare |
|
label |
hereditary spherocytosis |
|
notation |
MONDO:0019350 |
|
prefLabel |
hereditary spherocytosis |
|
see also |
https://rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis |
|
subClassOf |