Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5287022018 | CLN6-related neuronal ceroid lipofuscinosis type 6A | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5287024017 | Neuronal ceroid lipofuscinosis type 6A (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5287025016 | CLN6 transmembrane ER protein-related neuronal ceroid lipofuscinosis type 6A | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5287298016 | Neuronal ceroid lipofuscinosis type 6A | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5287299012 | vLINCL - variant late infantile neuronal ceroid lipofuscinosis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5287028019 | An autosomal recessive neurodegenerative disorder with a variable age at onset in the first years of life after normal early development followed by decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration. Caused by homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Neuronal ceroid lipofuscinosis type 6A (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Neuronal ceroid lipofuscinosis type 6A (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| Neuronal ceroid lipofuscinosis type 6A (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Neuronal ceroid lipofuscinosis type 6A (disorder) | Is a | Infantile neuronal ceroid lipofuscinosis (disorder) | true | Inferred relationship | Some | ||
| Neuronal ceroid lipofuscinosis type 6A (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR