Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
3318848018 | Intractable diarrhea with choanal atresia and eye anomaly syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3318849014 | Intractable diarrhoea with choanal atresia and eye anomaly syndrome | en | Synonym | Active | Case insensitive | 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 | Case sensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Associated morphology | Epithelial dysplasia | true | Inferred relationship | Some | 1 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Is a | Congenital anomaly of gastrointestinal tract | true | Inferred relationship | Some | ||
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Associated morphology | Congenital atresia | true | Inferred relationship | Some | 2 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Finding site | Structure of choana | true | Inferred relationship | Some | 2 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Finding site | Gastrointestinal tract structure | true | Inferred relationship | Some | 1 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Finding site | Eye structure | true | Inferred relationship | Some | 3 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Interprets | Digestive system function | false | Inferred relationship | Some | 7 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Is a | Chronic disease of respiratory system | true | Inferred relationship | Some | ||
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Is a | Congenital anomaly of eye | true | Inferred relationship | Some | ||
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Is a | Chronic diarrhoea of infants AND/OR young children | true | Inferred relationship | Some | ||
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Is a | Choanal atresia | true | Inferred relationship | Some | ||
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Clinical course | Chronic | true | Inferred relationship | Some | 6 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Has definitional manifestation | Diarrhoea | false | Inferred relationship | Some | ||
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Associated morphology | Epithelial dysplasia | false | Inferred relationship | Some | 6 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Finding site | Gastrointestinal tract structure | false | Inferred relationship | Some | 6 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Associated morphology | Congenital atresia | false | Inferred relationship | Some | 7 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Finding site | Structure of choana | false | Inferred relationship | Some | 7 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 5 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Finding site | Eye structure | false | Inferred relationship | Some | 5 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Interprets | Bowel action | true | Inferred relationship | Some | 4 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Has interpretation | Altered | true | Inferred relationship | Some | 4 | |
Intractable diarrhoea with choanal atresia and eye anomaly syndrome | Finding site | Intestinal structure | true | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Queensland allied health clinical finding reference set
Queensland allied health indicator for intervention reference set
Queensland allied health assessment reference set
Clinical finding foundation reference set
Respiratory finding reference set
Problem/Diagnosis reference set