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 |
| 3321537011 | Cardiospondylocarpofacial syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321538018 | Cardiospondylocarpofacial syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321539014 | Forney syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3321540011 | Forney Robinson Pascoe syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3321541010 | Mitral regurgitation with deafness and skeletal anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5402437016 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402438014 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastro-oesophageal reflux and genitourinary anomalies, among others. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR