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 |
| 1004991000172112 | maladie du motoneurone inférieur autosomique récessive de l'enfance | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| 770491000241113 | maladie du motoneurone inférieur autosomique récessive de l'enfance (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 990441000172114 | amyotrophie spinale distale autosomique récessive type 4 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| maladie du motoneurone inférieur autosomique récessive de l'enfance | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| maladie du motoneurone inférieur autosomique récessive de l'enfance | survenue (attribut) | enfance | true | Inferred relationship | Some | 2 | |
| maladie du motoneurone inférieur autosomique récessive de l'enfance | localisation d'une constatation (attribut) | système nerveux | true | Inferred relationship | Some | 1 | |
| maladie du motoneurone inférieur autosomique récessive de l'enfance | est un(e) (attribut) | trouble neurologique chronique | true | Inferred relationship | Some | ||
| maladie du motoneurone inférieur autosomique récessive de l'enfance | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 2 | |
| maladie du motoneurone inférieur autosomique récessive de l'enfance | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| maladie du motoneurone inférieur autosomique récessive de l'enfance | est un(e) (attribut) | affection d'un muscle squelettique | true | Inferred relationship | Some | ||
| maladie du motoneurone inférieur autosomique récessive de l'enfance | est un(e) (attribut) | Distal spinal muscular atrophy | true | Inferred relationship | Some | ||
| maladie du motoneurone inférieur autosomique récessive de l'enfance | est un(e) (attribut) | maladie chronique de l'appareil locomoteur | true | Inferred relationship | Some | ||
| maladie du motoneurone inférieur autosomique récessive de l'enfance | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 3 | |
| maladie du motoneurone inférieur autosomique récessive de l'enfance | survenue (attribut) | enfance | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR