paroxysmal nocturnal hemoglobinuria

Term ID

DOID:0060284

Synonyms

Definition

An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system. https://en.wikipedia.org/wiki/Paroxysmal_nocturnal_hemoglobinuria

References

• GARD:7337
• ICD10CM:D59.5
• ICD10CM:D59.6
• MESH:D006457
• MIM:300818
• MIM:615399
• NCI:C61233
• ORDO:447
• SNOMEDCT_US_2023_03_01:1468004
• SNOMEDCT_US_2023_03_01:154805009
• SNOMEDCT_US_2023_03_01:191226006
• UMLS_CUI:C0019050
• UMLS_CUI:C0024790
• UMLS_CUI:C0086774

Ontology

Human Disease   ( DOID:0060284 )