Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3706344017 | AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) related spastic ataxia, myoclonic epilepsy, neuropathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3706345016 | Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3706346015 | Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3706347012 | Autosomal recessive spastic ataxia type 5 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3706348019 | AFG3L2-related spastic ataxia, myoclonic epilepsy, neuropathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 770751000241111 | syndrome d'ataxie spastique-epilepsie myoclonique-neuropathie précoce (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 920321000172115 | syndrome d'ataxie spastique-epilepsie myoclonique-neuropathie précoce | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 943261000172112 | ataxie spastique autosomique récessive type 5 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3706349010 | A rare hereditary spastic ataxia disorder with childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. Caused by homozygous mutation in the AFG3L2 gene on chromosome 18p11. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | est un(e) (attribut) | Mitochondrial cytopathy | true | Inferred relationship | Some | ||
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | survenue (attribut) | enfance | true | Inferred relationship | Some | 2 | |
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | morphologie associée (attribut) | dégénérescence | false | Inferred relationship | Some | 1 | |
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | est un(e) (attribut) | ataxie spinocérébelleuse dominante | true | Inferred relationship | Some | ||
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | survenue (attribut) | enfance | true | Inferred relationship | Some | 3 | |
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 4 | |
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | est un(e) (attribut) | Childhood seizure (finding) | true | Inferred relationship | Some | ||
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | survenue (attribut) | enfance | true | Inferred relationship | Some | 1 | |
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | est un(e) (attribut) | Chronic metabolic disorder | true | Inferred relationship | Some | ||
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | est un(e) (attribut) | épilepsie myoclonique progressive | true | Inferred relationship | Some | ||
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | est un(e) (attribut) | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | localisation d'une constatation (attribut) | structure cérébelleuse | true | Inferred relationship | Some | 1 | |
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | morphologie associée (attribut) | dégénérescence | false | Inferred relationship | Some | 2 | |
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | localisation d'une constatation (attribut) | moelle spinale (structure corporelle) | true | Inferred relationship | Some | 2 | |
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | localisation d'une constatation (attribut) | structure du cerveau | true | Inferred relationship | Some | 3 | |
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | morphologie associée (attribut) | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | morphologie associée (attribut) | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | est un(e) (attribut) | Spinal cord myoclonus | true | Inferred relationship | Some | ||
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | est un(e) (attribut) | Acquired ataxia | true | Inferred relationship | Some | ||
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | est un(e) (attribut) | Extrapyramidal disease | true | Inferred relationship | Some | ||
| Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) | interprète (attribut) | Movement (observable entity) | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR