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 |
5402277014 | A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402278016 | A rare multiple congenital anomalies/dysmorphic syndrome characterised by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 | Congenital abnormal shape | 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 | Developmental anomaly | 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 | false | 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 | Congenital abnormal shape | 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 | ||
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Associated morphology | Premature fusion | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)