Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 103490017 | HNSHA due to diphosphoglycerate mutase deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 2621004014 | Hereditary nonspherocytic hemolytic anemia (HNSHA) due to diphosphoglycerate mutase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2621005010 | Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to diphosphoglycerate mutase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2913737012 | Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2914465016 | Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3780588018 | Hereditary nonspherocytic haemolytic anaemia due to diphosphoglycerate mutase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 12713481000172117 | anémie hémolytique héréditaire non sphérocytaire due à un déficit en BPGM (biphosphoglycérate mutase) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 12713491000172119 | anémie hémolytique héréditaire non sphérocytaire due à un déficit en biphosphoglycérate mutase | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4610151000172110 | hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van difosfoglyceraatmutase | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4610161000172112 | erfelijke niet-sferocytaire hemolytische anemie door difosfoglyceraatmutasedeficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4610171000172115 | erfelijke niet-sferocytaire hemolytische anemie door deficiëntie van difosfoglyceraatmutase | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Is a | Erythrocyte enzyme deficiency | true | Inferred relationship | Some | ||
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Is a | Hereditary disorder of hematologic system | false | Inferred relationship | Some | ||
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Is a | Anemia due to enzyme deficiency | true | Inferred relationship | Some | ||
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Is a | Congenital anomaly of the hematopoietic system | false | Inferred relationship | Some | ||
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Is a | Inborn error of metabolism | false | Inferred relationship | Some | ||
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Finding site | Erythrocyte | true | Inferred relationship | Some | 4 | |
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Finding site | Hematopoietic system structure | false | Inferred relationship | Some | ||
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Is a | Deficiency of bisphosphoglycerate mutase | false | Inferred relationship | Some | ||
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Is a | Hereditary nonspherocytic haemolytic anaemia | true | Inferred relationship | Some | ||
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Associated etiologic finding | Enzymopathy | false | Inferred relationship | Some | ||
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Associated etiologic finding | Deficiency of bisphosphoglycerate mutase | false | Inferred relationship | Some | ||
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Finding site | Hematopoietic system structure | false | Inferred relationship | Some | ||
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Has definitional manifestation | Erythropenia | false | Inferred relationship | Some | ||
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Due to | Deficiency of bisphosphoglycerate mutase | true | Inferred relationship | Some | 5 | |
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Has definitional manifestation | Hemolysis | false | Inferred relationship | Some | ||
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Finding site | Body system structure | false | Inferred relationship | Some | ||
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 1 | |
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Interprets | Red blood cell count | true | Inferred relationship | Some | 1 | |
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Interprets | Measurement of total haemoglobin concentration | true | Inferred relationship | Some | 2 | |
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Interprets | Erythrocyte destruction | false | Inferred relationship | Some | ||
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Has interpretation | Present | true | Inferred relationship | Some | 3 | |
| Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Interprets | Hemolysis (observable entity) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR