Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3655711013 | Constitutional mismatch repair deficiency syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655712018 | CMMR-D (constitutional mismatch repair deficiency) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3655713011 | Constitutional mismatch repair deficiency syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3657274010 | A rare inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (for example cafe au lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3657275011 | A rare inherited cancer-predisposing syndrome characterised by the development of a broad spectrum of malignancies during childhood, including mainly brain, haematological and gastrointestinal cancers, although embryonic and other tumours have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (for example cafe au lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Constitutional mismatch repair deficiency syndrome (disorder) | Due to | Chromosomal disorder (disorder) | false | Inferred relationship | Some | 2 | |
| Constitutional mismatch repair deficiency syndrome (disorder) | Is a | Congenital immunodeficiency disease | false | Inferred relationship | Some | ||
| Constitutional mismatch repair deficiency syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Constitutional mismatch repair deficiency syndrome (disorder) | Is a | Immunodeficiency associated with chromosomal abnormality | false | Inferred relationship | Some | ||
| Constitutional mismatch repair deficiency syndrome (disorder) | Is a | Hereditary disorder of immune system | false | Inferred relationship | Some | ||
| Constitutional mismatch repair deficiency syndrome (disorder) | Is a | Disorder of immune structure (disorder) | false | Inferred relationship | Some | ||
| Constitutional mismatch repair deficiency syndrome (disorder) | Is a | Hereditary cancer-predisposing syndrome | true | Inferred relationship | Some | ||
| Constitutional mismatch repair deficiency syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Constitutional mismatch repair deficiency syndrome (disorder) | Finding site | Structure of immune system (body structure) | false | Inferred relationship | Some | 1 | |
| Constitutional mismatch repair deficiency syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 3 | |
| Constitutional mismatch repair deficiency syndrome (disorder) | Is a | Primary immune deficiency disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Autosomal recessive hyperimmunoglobulin M syndrome due to MSH6 deficiency | Is a | True | Constitutional mismatch repair deficiency syndrome (disorder) | Inferred relationship | Some | |
| Constitutional mismatch repair deficiency syndrome due to PMS1 homolog 2, mismatch repair system component mutation (disorder) | Is a | True | Constitutional mismatch repair deficiency syndrome (disorder) | Inferred relationship | Some |
Reference Sets
FHIR