Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3424876017 | RAS-associated autoimmune leukoproliferative disease (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3424877014 | RAS-associated autoimmune leukoproliferative disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3424878016 | RAS-associated autoimmune leucoproliferative disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3424879012 | Autoimmune lymphoproliferative syndrome type 4 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424880010 | Autoimmune lymphoproliferative syndrome type IV | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3424881014 | RALD - RAS-associated autoimmune leukoproliferative disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3424882019 | RALD - RAS-associated autoimmune leucoproliferative disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 759681000241116 | maladie leucoproliférative auto-immune associée à RAS (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 933451000172110 | maladie leucoproliférative auto-immune associée à RAS | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 947801000172115 | RALD - RAS-associated autoimmune leukoproliferative disease | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3424883012 | An extremely rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia. Age of onset of the clinical signs is invariably in infancy or early childhood. Most patients have atypical features such as elevated counts for cells of myeloid origin (monocytosis and granulocytosis) making their clinical presentation indistinguishable from juvenile myelomonocytic leukemia. Caused by somatic mutations in the NRAS (1p13.2) and KRAS (12p12.1) genes encoding RAS proteins involved in regulating cell proliferation causing impairment of the intrinsic apoptosis pathway. The pattern of inheritance is not known. RAS mutations are considered somatic and limited to the circulating peripheral blood mononuclear cells. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3424884018 | An extremely rare genetic disorder characterised by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinaemia. Age of onset of the clinical signs is invariably in infancy or early childhood. Most patients have atypical features such as elevated counts for cells of myeloid origin (monocytosis and granulocytosis) making their clinical presentation indistinguishable from juvenile myelomonocytic leukaemia. Caused by somatic mutations in the NRAS (1p13.2) and KRAS (12p12.1) genes encoding RAS proteins involved in regulating cell proliferation causing impairment of the intrinsic apoptosis pathway. The pattern of inheritance is not known. RAS mutations are considered somatic and limited to the circulating peripheral blood mononuclear cells. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| RAS-associated autoimmune leukoproliferative disease (disorder) | Due to | anomalie chromosomique | true | Inferred relationship | Some | 2 | |
| RAS-associated autoimmune leukoproliferative disease (disorder) | est un(e) (attribut) | Autoimmune disease | true | Inferred relationship | Some | ||
| RAS-associated autoimmune leukoproliferative disease (disorder) | est un(e) (attribut) | Immunodeficiency associated with chromosomal abnormality | true | Inferred relationship | Some | ||
| RAS-associated autoimmune leukoproliferative disease (disorder) | est un(e) (attribut) | trouble lymphoprolifératif | true | Inferred relationship | Some | ||
| RAS-associated autoimmune leukoproliferative disease (disorder) | est un(e) (attribut) | syndrome familial avec prédisposition aux cancers (trouble) | true | Inferred relationship | Some | ||
| RAS-associated autoimmune leukoproliferative disease (disorder) | est défini par la manifestation de (attribut) | Immune system finding | false | Inferred relationship | Some | ||
| RAS-associated autoimmune leukoproliferative disease (disorder) | morphologie associée (attribut) | Lymphoproliferative disorder (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| RAS-associated autoimmune leukoproliferative disease (disorder) | Pathological process (attribute) | Autoimmune process | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada French language reference set (foundation metadata concept)
FHIR