Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3786588011 | Primary hyperaldosteronism, seizures, neurological abnormalities syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | true | Inferred relationship | Some | 1 | |
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) | est un(e) (attribut) | trouble convulsif | true | Inferred relationship | Some | ||
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) | localisation d'une constatation (attribut) | cortex surrénalien | true | Inferred relationship | Some | 2 | |
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) | est un(e) (attribut) | Primary aldosteronism | true | Inferred relationship | Some | ||
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets