Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3315210015 | Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3315211016 | Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3315212011 | Syndromic X-linked intellectual disability due to JARID1C mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3315213018 | Syndromic X-linked intellectual disability due to JARID1C (jumonji at-rich interactive domain 1c) mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3315214012 | This syndrome is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3315215013 | This syndrome is characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5313621000052110 | syndrom med X-bunden intellektuell funktionsnedsättning orsakat av JARID1C-mutation | 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 |
| Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) | Due to | Genetic mutation | false | Inferred relationship | Some | 1 | |
| Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) | Is a | mental retardation | false | Inferred relationship | Some | ||
| Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR