Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5097832012 | Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5097833019 | Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5097834013 | Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 13987121000146112 | syndroom van hydrops, lactaatacidose, sideroblastische anemie en multisysteemfalen | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13987131000146114 | syndroom van hydrops, lactaatacidose, sideroblastische anemie en multisysteemfalen (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5097835014 | A rare mitochondrial disease characterized by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anemia. This is followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients that survive the neonatal period have been reported to have sensorineural hearing loss and developmental delay. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5097836010 | A rare mitochondrial disease characterised by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anaemia. This is followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anaemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients that survive the neonatal period have been reported to have sensorineural hearing loss and developmental delay. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) | Is a | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | ||
| Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) | Is a | Hydrops fetalis | true | Inferred relationship | Some | ||
| Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) | Is a | Fetal anemia | true | Inferred relationship | Some | ||
| Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) | Occurrence | Fetal period | true | Inferred relationship | Some | 1 | |
| Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) | Associated morphology | Hydrops | true | Inferred relationship | Some | 1 | |
| Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) | Is a | Sideroblastic anemia | true | Inferred relationship | Some | ||
| Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) | Is a | Fetal acidosis | true | Inferred relationship | Some | ||
| Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) | Is a | Lactic acidosis | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR