Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
5097833019 | Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
5097834013 | Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
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 | Case sensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome | Is a | Mitochondrial cytopathy | true | Inferred relationship | Some | ||
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome | Is a | Hydrops fetalis | true | Inferred relationship | Some | ||
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome | Is a | Fetal anaemia | true | Inferred relationship | Some | ||
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome | Occurrence | Fetal period | true | Inferred relationship | Some | 1 | |
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome | Associated morphology | Hydrops | true | Inferred relationship | Some | 1 | |
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome | Is a | Sideroblastic anaemia | true | Inferred relationship | Some | ||
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome | Is a | Fetal acidosis | true | Inferred relationship | Some | ||
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome | Is a | Lactic acidosis | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set