Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3993909017 | Schindler disease type 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3993910010 | Alpha-N-acetylgalactosaminidase deficiency type 1 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3993911014 | Alpha-N-acetylgalactosaminidase deficiency type 1 (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4570366015 | NAGA (alpha-N-acetylgalactosaminidase) deficiency type 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3994396016 | A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4009619015 | A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Alpha-N-acetylgalactosaminidase deficiency type 1 | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Alpha-N-acetylgalactosaminidase deficiency type 1 | Is a | Alpha-N-acetylgalactosaminidase deficiency | true | Inferred relationship | Some | ||
| Alpha-N-acetylgalactosaminidase deficiency type 1 | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Alpha-N-acetylgalactosaminidase deficiency type 1 | Finding site | Structure of central nervous system (body structure) | false | Inferred relationship | Some | 2 | |
| Alpha-N-acetylgalactosaminidase deficiency type 1 | Associated morphology | Degenerative abnormality | false | Inferred relationship | Some | 2 | |
| Alpha-N-acetylgalactosaminidase deficiency type 1 | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR