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 |
| 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 Common French translation module (core metadata concept) |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | est un(e) (attribut) | Congenital anomaly of eyelid | false | Inferred relationship | Some | ||
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | est un(e) (attribut) | Congenital abnormality of cardiac ventricle | true | Inferred relationship | Some | ||
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | est un(e) (attribut) | Narrowing of palpebral fissure | false | Inferred relationship | Some | ||
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | est un(e) (attribut) | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | est un(e) (attribut) | Congenital abnormality of atrium (disorder) | true | Inferred relationship | Some | ||
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | est un(e) (attribut) | Congenital anomaly of anus | true | Inferred relationship | Some | ||
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | est un(e) (attribut) | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | est un(e) (attribut) | Congenital septal defect of heart (disorder) | true | Inferred relationship | Some | ||
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | est un(e) (attribut) | Congenital anomaly of upper limb | true | Inferred relationship | Some | ||
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | est un(e) (attribut) | Congenital blepharophimosis | true | Inferred relationship | Some | ||
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | est un(e) (attribut) | Congenital anomaly of atrioventricular septum | true | Inferred relationship | Some | ||
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | morphologie associée (attribut) | rétrécissement | true | Inferred relationship | Some | 4 | |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | localisation d'une constatation (attribut) | Structure of palpebral fissure | true | Inferred relationship | Some | 4 | |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | localisation d'une constatation (attribut) | Structure of atrioventricular septum | true | Inferred relationship | Some | 1 | |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 2 | |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | morphologie associée (attribut) | Congenital septal defect (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | localisation d'une constatation (attribut) | structure anale | true | Inferred relationship | Some | 3 | |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | localisation d'une constatation (attribut) | bras | true | Inferred relationship | Some | 2 | |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | est un(e) (attribut) | Congenital anomaly of cardiac chamber (disorder) | false | Inferred relationship | Some | ||
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale | est un(e) (attribut) | Congenital abnormality of cardiac connection | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR