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 |
| 3705546010 | Autosomal recessive distal spinal muscular atrophy type 4 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3705547018 | Autosomal recessive lower motor neuron disease with childhood onset | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3705548011 | Distal spinal muscular atrophy type 4 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3705549015 | Autosomal recessive lower motor neuron disease with childhood onset (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3705550015 | A rare genetic neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. There is evidence the disease is caused by homozygous mutation in the gene encoding pleckstrin homology domain-containing protein, family G member 5 (PLEKHG5) on chromosome 1p36. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3705551016 | A rare genetic neuromuscular disease characterised by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalised areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalised weakness and slower disease progress was reported. There is evidence the disease is caused by homozygous mutation in the gene encoding pleckstrin homology domain-containing protein, family G member 5 (PLEKHG5) on chromosome 1p36. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive lower motor neuron disease with childhood onset | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Autosomal recessive lower motor neuron disease with childhood onset | Occurrence | Childhood | true | Inferred relationship | Some | 2 | |
| Autosomal recessive lower motor neuron disease with childhood onset | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| Autosomal recessive lower motor neuron disease with childhood onset | Is a | Chronic nervous system disorder (disorder) | false | Inferred relationship | Some | ||
| Autosomal recessive lower motor neuron disease with childhood onset | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 2 | |
| Autosomal recessive lower motor neuron disease with childhood onset | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive lower motor neuron disease with childhood onset | Is a | Disorder of skeletal muscle | true | Inferred relationship | Some | ||
| Autosomal recessive lower motor neuron disease with childhood onset | Is a | Distal spinal muscular atrophy | true | Inferred relationship | Some | ||
| Autosomal recessive lower motor neuron disease with childhood onset | Is a | Chronic disease of musculoskeletal system | true | Inferred relationship | Some | ||
| Autosomal recessive lower motor neuron disease with childhood onset | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
| Autosomal recessive lower motor neuron disease with childhood onset | Occurrence | Childhood | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR