Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3637753015 | Houlston Ironton Temple syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3637756011 | Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3637757019 | Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3638128012 | A rare genetic multiple congenital anomaly syndrome with characteristics of atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly placed anus, rectovaginal fistula) defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 1013131000241116 | syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Is a | Congenital anomaly of anus | true | Inferred relationship | Some | ||
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Is a | Congenital septal defect of heart | false | Inferred relationship | Some | ||
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Is a | Congenital anomaly of upper limb | true | Inferred relationship | Some | ||
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Is a | Congenital blepharophimosis | true | Inferred relationship | Some | ||
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Is a | Congenital anomaly of atrioventricular septum | false | Inferred relationship | Some | ||
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Associated morphology | Narrowed structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Finding site | Structure of palpebral fissure | true | Inferred relationship | Some | 4 | |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 3 | |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Finding site | Structure of atrioventricular septum | true | Inferred relationship | Some | 1 | |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 2 | |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Associated morphology | Congenital septal defect (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Finding site | Anal structure | true | Inferred relationship | Some | 3 | |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Finding site | Upper limb structure | true | Inferred relationship | Some | 2 | |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Is a | Congenital anomaly of cardiac chamber (disorder) | false | Inferred relationship | Some | ||
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Is a | Congenital abnormality of cardiac connection | false | Inferred relationship | Some | ||
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Is a | Congenital anomaly of eyelid | false | Inferred relationship | Some | ||
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Is a | Congenital abnormality of cardiac ventricle | false | Inferred relationship | Some | ||
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Is a | Narrowing of palpebral fissure (disorder) | false | Inferred relationship | Some | ||
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Is a | Congenital abnormality of atrium (disorder) | false | Inferred relationship | Some | ||
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | Is a | Congenital atrioventricular septal defect (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR