Status: current, Primitive. Date: 31-Jan 2020. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3786587018 | Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3786588011 | Primary hyperaldosteronism, seizures, neurological abnormalities syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3786589015 | A rare genetic neurologic disease with characteristics of primary hyperaldosteronism presenting with early-onset severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability). There is evidence the disease is caused by heterozygous mutation in the CACNA1D gene on chromosome 3p21. | en | Definition | Active | Case sensitive | SNOMED CT core |
3786590012 | A rare genetic neurologic disease with characteristics of primary hyperaldosteronism presenting with early-onset severe hypertension, hypokalaemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability). There is evidence the disease is caused by heterozygous mutation in the CACNA1D gene on chromosome 3p21. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome | Is a | Seizure disorder | true | Inferred relationship | Some | ||
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome | Finding site | Adrenal cortex structure | true | Inferred relationship | Some | 2 | |
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome | Is a | Primary aldosteronism | true | Inferred relationship | Some | ||
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set