Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5309353017 | PERCHING syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5309354011 | KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5309355012 | Kelch like family member 7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5309356013 | Kelch like family member 7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5309358014 | KLHL7 (kelch like family member 7) related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 15096061000146116 | KLHL7-gerelateerd overlapsyndroom gelijkend op Bohring-Opitz-syndroom en 'cold-induced sweating'-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 15096071000146110 | KLHL7-gerelateerd overlapsyndroom gelijkend op Bohring-Opitz-syndroom en Crisponi-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 15096081000146112 | KLHL7-gerelateerd overlapsyndroom gelijkend op Bohring-Opitz-syndroom en 'cold-induced sweating'-syndroom (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 15096091000146114 | KLHL7-gerelateerd overlapsyndroom gelijkend op BOS en CISS | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 15096101000146119 | PERCHING-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5309357016 | A rare genetic, multiple congenital anomalies syndrome with characteristics of the overlap of several typical clinical features of Bohring-Opitz syndrome and of Crisponi Syndrome/cold-induced sweating syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome | Is a | Genetic disease | true | Inferred relationship | Some | ||
| KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR