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 |
| 1008261000172116 | dystrophie musculaire congénitale par déficit en intégrine alpha-7 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3705354013 | Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3705355014 | Congenital muscular dystrophy with integrin alpha-7 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3705356010 | Congenital muscular dystrophy with ITGA7 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3705357018 | Congenital muscular dystrophy with ITGA7 (integrin alpha-7) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 770441000241119 | dystrophie musculaire congénitale par déficit en intégrine alpha-7 (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 913571000172110 | dystrophie musculaire congénitale par déficit en ITGA7 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3705358011 | A rare genetic congenital muscular dystrophy due to extracellular matrix protein anomaly. The disease has characteristics of early motor development delay and muscle weakness with mild elevation of serum creatine kinase that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. There is evidence this disease is caused by compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| dystrophie musculaire congénitale par déficit en intégrine alpha-7 | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| dystrophie musculaire congénitale par déficit en intégrine alpha-7 | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| dystrophie musculaire congénitale par déficit en intégrine alpha-7 | est un(e) (attribut) | Congenital hereditary muscular dystrophy | true | Inferred relationship | Some | ||
| dystrophie musculaire congénitale par déficit en intégrine alpha-7 | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 2 | |
| dystrophie musculaire congénitale par déficit en intégrine alpha-7 | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 1 | |
| dystrophie musculaire congénitale par déficit en intégrine alpha-7 | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| dystrophie musculaire congénitale par déficit en intégrine alpha-7 | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| dystrophie musculaire congénitale par déficit en intégrine alpha-7 | est un(e) (attribut) | Congenital muscular dystrophy | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR