Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jan 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5429555019 | Constitutional mismatch repair deficiency syndrome due to PMS1 homolog 2, mismatch repair system component mutation (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5429556018 | Constitutional mismatch repair deficiency syndrome due to PMS2 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5429557010 | Constitutional mismatch repair deficiency syndrome due to PMS1 homolog 2, mismatch repair system component mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5429558017 | Constitutional mismatch repair deficiency syndrome due to PMS2 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Constitutional mismatch repair deficiency syndrome due to PMS1 homolog 2, mismatch repair system component mutation (disorder) | Is a | Constitutional mismatch repair deficiency syndrome (disorder) | true | Inferred relationship | Some | ||
| Constitutional mismatch repair deficiency syndrome due to PMS1 homolog 2, mismatch repair system component mutation (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR