Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2990594011 | EAST (Epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 2990596013 | Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2990613014 | Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3691791000052115 | syndrom med epilepsi, ataxi, sensorineural hörselnedsättning och tubulopati (EAST-syndrom) | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| syndrom med epilepsi, ataxi, sensorineural hörselnedsättning och tubulopati (EAST-syndrom) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| syndrom med epilepsi, ataxi, sensorineural hörselnedsättning och tubulopati (EAST-syndrom) | Is a | multisystemsjukdom | false | Inferred relationship | Some | ||
| syndrom med epilepsi, ataxi, sensorineural hörselnedsättning och tubulopati (EAST-syndrom) | Is a | Hypocalciuria | false | Inferred relationship | Some | ||
| syndrom med epilepsi, ataxi, sensorineural hörselnedsättning och tubulopati (EAST-syndrom) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| syndrom med epilepsi, ataxi, sensorineural hörselnedsättning och tubulopati (EAST-syndrom) | Is a | Familial hypokalaemic and hypomagnesaemic tubulopathy | false | Inferred relationship | Some | ||
| syndrom med epilepsi, ataxi, sensorineural hörselnedsättning och tubulopati (EAST-syndrom) | Is a | Hereditary nephropathy (disorder) | false | Inferred relationship | Some | ||
| syndrom med epilepsi, ataxi, sensorineural hörselnedsättning och tubulopati (EAST-syndrom) | Associated morphology | inflammation | false | Inferred relationship | Some | 1 | |
| syndrom med epilepsi, ataxi, sensorineural hörselnedsättning och tubulopati (EAST-syndrom) | Finding site | Structure of parenchyma of kidney | false | Inferred relationship | Some | 1 | |
| syndrom med epilepsi, ataxi, sensorineural hörselnedsättning och tubulopati (EAST-syndrom) | Associated morphology | inflammation | false | Inferred relationship | Some | 2 | |
| syndrom med epilepsi, ataxi, sensorineural hörselnedsättning och tubulopati (EAST-syndrom) | Finding site | Structure of interstitial tissue of kidney | false | Inferred relationship | Some | 2 | |
| syndrom med epilepsi, ataxi, sensorineural hörselnedsättning och tubulopati (EAST-syndrom) | Is a | Renal hypocalciuria (disorder) | false | Inferred relationship | Some | ||
| syndrom med epilepsi, ataxi, sensorineural hörselnedsättning och tubulopati (EAST-syndrom) | Is a | Hereditary ataxia (disorder) | false | Inferred relationship | Some | ||
| syndrom med epilepsi, ataxi, sensorineural hörselnedsättning och tubulopati (EAST-syndrom) | Finding site | Structure of interstitial tissue of kidney | false | Inferred relationship | Some | 1 | |
| syndrom med epilepsi, ataxi, sensorineural hörselnedsättning och tubulopati (EAST-syndrom) | Associated morphology | Inflammatory morphology (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| syndrom med epilepsi, ataxi, sensorineural hörselnedsättning och tubulopati (EAST-syndrom) | Associated morphology | Inflammatory morphology (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| syndrom med epilepsi, ataxi, sensorineural hörselnedsättning och tubulopati (EAST-syndrom) | Finding site | Renal tubule structure (body structure) | false | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
SAME AS association reference set (foundation metadata concept)
FHIR