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 |
3314972019 | Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3314973012 | Trigonocephaly with bifid nose and acral anomaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3314974018 | This syndrome has characteristics of trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges. It has been described in a brother and his sister born to consanguineous parents. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3920121000052117 | syndrom med trigonocefali, kluven näsa och akral anomali | 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 |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Is a | Trigonocephaly | true | Inferred relationship | Some | ||
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Is a | Congenital anomaly of nose | false | Inferred relationship | Some | ||
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Is a | Congenital anomaly of digit (disorder) | true | Inferred relationship | Some | ||
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Associated morphology | Bilobed structure | false | Inferred relationship | Some | 4 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Finding site | Nasal structure | true | Inferred relationship | Some | 4 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Associated morphology | Bilobed structure | false | Inferred relationship | Some | 5 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Finding site | Nasal structure | false | Inferred relationship | Some | 5 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Associated morphology | medfödd onormal form | false | Inferred relationship | Some | 4 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Finding site | Frontal bone structure | false | Inferred relationship | Some | 4 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Associated morphology | Congenital premature fusion | false | Inferred relationship | Some | 7 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Finding site | Structure of frontal suture of skull | false | Inferred relationship | Some | 7 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 6 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Finding site | Digit structure | false | Inferred relationship | Some | 6 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Associated morphology | Congenital premature fusion | true | Inferred relationship | Some | 2 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Finding site | Structure of frontal suture of skull | true | Inferred relationship | Some | 2 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Finding site | Frontal bone structure | true | Inferred relationship | Some | 1 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Associated morphology | medfödd onormal form | false | Inferred relationship | Some | 1 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Finding site | Digit structure | true | Inferred relationship | Some | 3 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Associated morphology | Abnormal shape (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Is a | Bifid nose (disorder) | true | Inferred relationship | Some | ||
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets