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 |
3314976016 | Trigonocephaly with broad thumb syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3318436014 | Trigonocephaly with broad thumb syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3318556013 | Hunter Rudd Hoffmann syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3318557016 | This syndrome has characteristics of neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Trigonocephaly with broad thumb syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Trigonocephaly with broad thumb syndrome (disorder) | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Trigonocephaly with broad thumb syndrome (disorder) | Is a | Trigonocephaly | true | Inferred relationship | Some | ||
Trigonocephaly with broad thumb syndrome (disorder) | Is a | Disorder of hand (disorder) | true | Inferred relationship | Some | ||
Trigonocephaly with broad thumb syndrome (disorder) | Is a | Congenital anomaly of nose | true | Inferred relationship | Some | ||
Trigonocephaly with broad thumb syndrome (disorder) | Is a | Broad thumbs | true | Inferred relationship | Some | ||
Trigonocephaly with broad thumb syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Trigonocephaly with broad thumb syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Trigonocephaly with broad thumb syndrome (disorder) | Is a | Congenital anomaly of digit (disorder) | true | Inferred relationship | Some | ||
Trigonocephaly with broad thumb syndrome (disorder) | Finding site | Thumb structure | true | Inferred relationship | Some | 6 | |
Trigonocephaly with broad thumb syndrome (disorder) | Interprets | Form of thumb | false | Inferred relationship | Some | 5 | |
Trigonocephaly with broad thumb syndrome (disorder) | Associated morphology | Congenital abnormal shape | false | Inferred relationship | Some | 6 | |
Trigonocephaly with broad thumb syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Trigonocephaly with broad thumb syndrome (disorder) | Finding site | Frontal bone structure | false | Inferred relationship | Some | 6 | |
Trigonocephaly with broad thumb syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 7 | |
Trigonocephaly with broad thumb syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Trigonocephaly with broad thumb syndrome (disorder) | Finding site | Nasal structure | false | Inferred relationship | Some | 7 | |
Trigonocephaly with broad thumb syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 8 | |
Trigonocephaly with broad thumb syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Trigonocephaly with broad thumb syndrome (disorder) | Finding site | Digit structure | false | Inferred relationship | Some | 8 | |
Trigonocephaly with broad thumb syndrome (disorder) | Associated morphology | Congenital premature fusion | false | Inferred relationship | Some | 9 | |
Trigonocephaly with broad thumb syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Trigonocephaly with broad thumb syndrome (disorder) | Finding site | Structure of frontal suture of skull | false | Inferred relationship | Some | 9 | |
Trigonocephaly with broad thumb syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Trigonocephaly with broad thumb syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Trigonocephaly with broad thumb syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Trigonocephaly with broad thumb syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Trigonocephaly with broad thumb syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Trigonocephaly with broad thumb syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Trigonocephaly with broad thumb syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Trigonocephaly with broad thumb syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Trigonocephaly with broad thumb syndrome (disorder) | Finding site | Digit structure | true | Inferred relationship | Some | 3 | |
Trigonocephaly with broad thumb syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Trigonocephaly with broad thumb syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Trigonocephaly with broad thumb syndrome (disorder) | Associated morphology | Congenital abnormal shape | false | Inferred relationship | Some | 4 | |
Trigonocephaly with broad thumb syndrome (disorder) | Finding site | Frontal bone structure | true | Inferred relationship | Some | 4 | |
Trigonocephaly with broad thumb syndrome (disorder) | Finding site | Nasal structure | true | Inferred relationship | Some | 1 | |
Trigonocephaly with broad thumb syndrome (disorder) | Finding site | Structure of frontal suture of skull | true | Inferred relationship | Some | 2 | |
Trigonocephaly with broad thumb syndrome (disorder) | Associated morphology | Congenital premature fusion | false | Inferred relationship | Some | 2 | |
Trigonocephaly with broad thumb syndrome (disorder) | Associated morphology | Abnormal shape (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Trigonocephaly with broad thumb syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Trigonocephaly with broad thumb syndrome (disorder) | Associated morphology | Premature fusion | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets