Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3303306013 | Chronic diarrhea due to glucoamylase deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305365013 | Chronic diarrhea due to glucoamylase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305366014 | Chronic diarrhoea due to glucoamylase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305367017 | Maltase glucoamylase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305368010 | This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency. The prevalence is unknown. Patients with chronic diarrhoea and glucoamylase deficiency may also display other disaccharidase deficiencies (sucrase, and lactase) and signs of small intestinal mucosal injury (secondary glucoamylase deficiency). No causative mutations in the maltase-glucoamylase gene have been identified so far. Patients generally respond to a starch-free diet. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3305369019 | This syndrome is characterized by chronic diarrhea in infancy or childhood in association with intestinal glucoamylase deficiency. The prevalence is unknown. Patients with chronic diarrhea and glucoamylase deficiency may also display other disaccharidase deficiencies (sucrase, and lactase) and signs of small intestinal mucosal injury (secondary glucoamylase deficiency). No causative mutations in the maltase-glucoamylase gene have been identified so far. Patients generally respond to a starch-free diet. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Chronic diarrhea due to glucoamylase deficiency (disorder) | Due to | Deficiency of glucan 1,4-alpha-glucosidase | true | Inferred relationship | Some | 5 | |
| Chronic diarrhea due to glucoamylase deficiency (disorder) | Is a | Chronic diarrhea of infants AND/OR young children | true | Inferred relationship | Some | ||
| Chronic diarrhea due to glucoamylase deficiency (disorder) | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
| Chronic diarrhea due to glucoamylase deficiency (disorder) | Clinical course | Chronic | true | Inferred relationship | Some | 3 | |
| Chronic diarrhea due to glucoamylase deficiency (disorder) | Has definitional manifestation | Diarrhea | false | Inferred relationship | Some | ||
| Chronic diarrhea due to glucoamylase deficiency (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Chronic diarrhea due to glucoamylase deficiency (disorder) | Finding site | Gastrointestinal tract structure | false | Inferred relationship | Some | 4 | |
| Chronic diarrhea due to glucoamylase deficiency (disorder) | Has interpretation | Altered | false | Inferred relationship | Some | 2 | |
| Chronic diarrhea due to glucoamylase deficiency (disorder) | Interprets | Bowel action | false | Inferred relationship | Some | 2 | |
| Chronic diarrhea due to glucoamylase deficiency (disorder) | Finding site | Intestinal structure | true | Inferred relationship | Some | 1 | |
| Chronic diarrhea due to glucoamylase deficiency (disorder) | Interprets | Digestive system function | false | Inferred relationship | Some | 6 | |
| Chronic diarrhea due to glucoamylase deficiency (disorder) | Is a | Gastrointestinal complication | true | Inferred relationship | Some | ||
| Chronic diarrhea due to glucoamylase deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Chronic diarrhea due to glucoamylase deficiency (disorder) | Is a | Disorder of digestive system specific to fetus OR newborn | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR