Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 134190018 | Neutral 1 amino acid transport defect | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 134191019 | Hartnup disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 134192014 | Hartnup disorder | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 822114012 | Neutral 1 amino acid transport defect (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 1234522018 | Neutral amino acid transport defect | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Neutral 1 amino acid transport defect | Is a | Congenital anomaly of trunk | false | Inferred relationship | Some | ||
| Neutral 1 amino acid transport defect | Is a | Specific renal tubule transport defect | true | Inferred relationship | Some | ||
| Neutral 1 amino acid transport defect | Is a | Hereditary disorder of the urinary system | false | Inferred relationship | Some | ||
| Neutral 1 amino acid transport defect | Is a | Amino acid transport disorder | true | Inferred relationship | Some | ||
| Neutral 1 amino acid transport defect | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Neutral 1 amino acid transport defect | Finding site | Kidney structure | true | Inferred relationship | Some | 1 | |
| Neutral 1 amino acid transport defect | Is a | Metabolic renal disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Hartnup disorder, renal type | Is a | True | Neutral 1 amino acid transport defect | Inferred relationship | Some | |
| Hartnup disorder, renal/jejunal type | Is a | True | Neutral 1 amino acid transport defect | Inferred relationship | Some | |
| Dystonia due to neutral 1 amino acid transport defect (disorder) | Due to | True | Neutral 1 amino acid transport defect | Inferred relationship | Some | 3 |
Reference Sets
FHIR