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 |
| 3331431016 | Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331432011 | Hypoplasia and coloboma of alar cartilage with telecanthus syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331433018 | Alar cartilage hypoplasia, coloboma, telecanthus syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331434012 | A very rare dysmorphic disorder with characteristics of hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3909391000052118 | syndrom med hypoplasi och kolobom i alarbrosket och telekantus | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Is a | Congenital anomaly of cartilage | true | Inferred relationship | Some | ||
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Is a | Congenital anomaly of eyelid | true | Inferred relationship | Some | ||
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Is a | Congenital hypoplasia of nose | true | Inferred relationship | Some | ||
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Is a | Telecanthus | true | Inferred relationship | Some | ||
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Is a | Disorder of soft tissue of head | true | Inferred relationship | Some | ||
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Associated morphology | medfödd utebliven fusion | false | Inferred relationship | Some | 5 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Finding site | Alar cartilage structure | false | Inferred relationship | Some | 5 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Associated morphology | Hypoplasia | false | Inferred relationship | Some | 3 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Finding site | Alar cartilage structure | true | Inferred relationship | Some | 3 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 4 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Finding site | Structure of palpebral fissure | false | Inferred relationship | Some | 4 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Finding site | Alar cartilage structure | true | Inferred relationship | Some | 1 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Is a | Lesion of nose | false | Inferred relationship | Some | ||
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Is a | Soft tissue lesion | true | Inferred relationship | Some | ||
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Finding site | Structure of palpebral fissure | true | Inferred relationship | Some | 2 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 1 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Is a | Congenital cleft nose | true | Inferred relationship | Some | ||
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR