loading...| Preferred Name |
hereditary elliptocytosis |
|
| Synonyms |
ovalocytosis congenital elliptocytosis hereditary ovalocytosis Hashimoto Encephalopathy HE |
|
| Definitions |
Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0017319 |
|
| closeMatch | ||
| database_cross_reference |
SCTID:178935009 ICD10CM:D58.1 icd11.foundation:679955609 MedDRA:10014490 MESH:D004612 NCIT:C35882 UMLS:C0013902 Orphanet:288 NANDO:2200630 DOID:2373 GARD:6621 ICD9:282.1 NORD:1935 |
|
| definition |
Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic. |
|
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_288 http://purl.obolibrary.org/obo/NCIT_C35882 http://purl.obolibrary.org/obo/DOID_2373 http://identifiers.org/mesh/D004612 http://linkedlifedata.com/resource/umls/id/C0013902 |
|
| has_exact_synonym |
ovalocytosis congenital elliptocytosis hereditary ovalocytosis Hashimoto Encephalopathy HE |
|
| id |
MONDO:0017319 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
hereditary elliptocytosis |
|
| notation |
MONDO:0017319 |
|
| preferred label |
hereditary elliptocytosis |
|
| prefLabel |
hereditary elliptocytosis |
|
| subClassOf |