Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2022. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5089117014 | Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive | SNOMED CT core module |
| 5089118016 | MEPAN syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 5089119012 | Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 5089120018 | DYT29 - dystonia 29 | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 5089121019 | Autosomal recessive childhood-onset dystonia DYT29 type | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 5089122014 | Childhood-onset generalized dystonia, optic atrophy syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 5089123016 | Childhood-onset generalised dystonia, optic atrophy syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Existential restriction modifier | ||
| Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome | Is a | Mitochondrial cytopathy | true | Inferred relationship | Existential restriction modifier | ||
| Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome | Is a | Hereditary optic atrophy | true | Inferred relationship | Existential restriction modifier | ||
| Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome | Is a | Generalized dystonia | true | Inferred relationship | Existential restriction modifier | ||
| Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome | Is a | Disorder of basal ganglia | true | Inferred relationship | Existential restriction modifier | ||
| Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome | Interprets | Movement | true | Inferred relationship | Existential restriction modifier | 3 | |
| Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 4 | |
| Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome | Finding site | Basal ganglion structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome | Finding site | Optic nerve structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome | Associated morphology | Primary atrophy | true | Inferred relationship | Existential restriction modifier | 1 | |
| Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome | Is a | Chronic metabolic disorder | true | Inferred relationship | Existential restriction modifier | ||
| Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome | Is a | Chronic brain syndrome | true | Inferred relationship | Existential restriction modifier | ||
| Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome | Clinical course | Chronic persistent | true | Inferred relationship | Existential restriction modifier | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR