Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5464041016 | Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5464042011 | SLC12A2-related developmental delay, intellectual disability, sensorineural deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5464043018 | Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5464044012 | A rare genetic, syndromic intellectual disability syndrome characterised by mild to severe global developmental delay and intellectual disability, delayed or absent speech and walking, and bilateral sensorineural deafness. Severity of the symptoms are variable. Patients may manifest with profound hypotonia, severe feeding difficulties and secretory dysfunction. Autistic features, spasticity, mild and non-specific dysmorphic features and cardiac defects were reported in some patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5464045013 | A rare genetic, syndromic intellectual disability syndrome characterized by mild to severe global developmental delay and intellectual disability, delayed or absent speech and walking, and bilateral sensorineural deafness. Severity of the symptoms are variable. Patients may manifest with profound hypotonia, severe feeding difficulties and secretory dysfunction. Autistic features, spasticity, mild and non-specific dysmorphic features and cardiac defects were reported in some patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | Is a | Genetic intellectual disability | true | Inferred relationship | Some | ||
| Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 1 | |
| Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 1 | |
| Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 2 | |
| Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | Is a | Decreased hearing (finding) | true | Inferred relationship | Some | ||
| Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | Is a | Sensorineural hearing loss of bilateral ears | true | Inferred relationship | Some | ||
| Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | Is a | Hereditary hearing loss | true | Inferred relationship | Some | ||
| Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | Finding site | Right ear structure | true | Inferred relationship | Some | 4 | |
| Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | Finding site | Left ear structure | true | Inferred relationship | Some | 5 | |
| Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 6 | |
| Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 6 | |
| Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | Is a | Neurodevelopmental delay (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR