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 |
| 3318686013 | Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3318848018 | Intractable diarrhea with choanal atresia and eye anomaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3318849014 | Intractable diarrhoea with choanal atresia and eye anomaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3318850014 | This syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318851013 | This syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | morphologie associée (attribut) | Epithelial dysplasia | true | Inferred relationship | Some | 1 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | est un(e) (attribut) | anomalie congénitale du tractus gastro-intestinal | true | Inferred relationship | Some | ||
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | morphologie associée (attribut) | Congenital atresia (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | localisation d'une constatation (attribut) | Structure of choana (body structure) | true | Inferred relationship | Some | 2 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | localisation d'une constatation (attribut) | structure du tractus gastro-intestinal | true | Inferred relationship | Some | 1 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | localisation d'une constatation (attribut) | Structure of eye proper (body structure) | true | Inferred relationship | Some | 3 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | interprète (attribut) | Digestive system function (observable entity) | false | Inferred relationship | Some | 7 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | est un(e) (attribut) | Chronic disease of respiratory system | true | Inferred relationship | Some | ||
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of eye | true | Inferred relationship | Some | ||
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | est un(e) (attribut) | Chronic diarrhoea of infants AND/OR young children | true | Inferred relationship | Some | ||
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | est un(e) (attribut) | atrésie choanale (trouble) | true | Inferred relationship | Some | ||
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | évolution clinique (attribut) | chronique | true | Inferred relationship | Some | 6 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | est défini par la manifestation de (attribut) | Diarrhea | false | Inferred relationship | Some | ||
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | morphologie associée (attribut) | Epithelial dysplasia | false | Inferred relationship | Some | 6 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | localisation d'une constatation (attribut) | structure du tractus gastro-intestinal | false | Inferred relationship | Some | 6 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | morphologie associée (attribut) | Congenital atresia (morphologic abnormality) | false | Inferred relationship | Some | 7 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | localisation d'une constatation (attribut) | Structure of choana (body structure) | false | Inferred relationship | Some | 7 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 5 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | localisation d'une constatation (attribut) | Structure of eye proper (body structure) | false | Inferred relationship | Some | 5 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | interprète (attribut) | Bowel action | true | Inferred relationship | Some | 4 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | a pour interprétation (attribut) | Altered | true | Inferred relationship | Some | 4 | |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) | localisation d'une constatation (attribut) | intestins | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR