Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3318104013 | X-linked distal arthrogryposis multiplex congenita (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318105014 | X-linked distal arthrogryposis multiplex congenita | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318106010 | Spinal muscular atrophy with arthrogryposis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3318107018 | X-linked spinal muscular atrophy type 2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4578747016 | Infantile-onset X-linked spinal muscular atrophy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 6168401000146117 | X-gebonden distale arthrogryposis multiplex congenita | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6168411000146115 | X-gebonden distale arthrogryposis multiplex congenita (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6168421000146113 | spinale spieratrofie met artrogrypose | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6168431000146110 | X-gebonden spinale musculaire atrofie type 2 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6168441000146119 | AMCX1 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6168451000146116 | SMAX2 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3318108011 | A rare form of spinal muscular atrophy with characteristics of the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Patients have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked distal arthrogryposis multiplex congenita (disorder) | Is a | Spinal muscular atrophy | true | Inferred relationship | Some | ||
| X-linked distal arthrogryposis multiplex congenita (disorder) | Is a | Inherited arthrogryposis | true | Inferred relationship | Some | ||
| X-linked distal arthrogryposis multiplex congenita (disorder) | Is a | amyoplasia congenita (aandoening) | false | Inferred relationship | Some | ||
| X-linked distal arthrogryposis multiplex congenita (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked distal arthrogryposis multiplex congenita (disorder) | Finding site | Structure of nervous system (body structure) | false | Inferred relationship | Some | 3 | |
| X-linked distal arthrogryposis multiplex congenita (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| X-linked distal arthrogryposis multiplex congenita (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 3 | |
| X-linked distal arthrogryposis multiplex congenita (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| X-linked distal arthrogryposis multiplex congenita (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 4 | |
| X-linked distal arthrogryposis multiplex congenita (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 3 | |
| X-linked distal arthrogryposis multiplex congenita (disorder) | Associated morphology | Contracture | false | Inferred relationship | Some | 4 | |
| X-linked distal arthrogryposis multiplex congenita (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| X-linked distal arthrogryposis multiplex congenita (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 1 | |
| X-linked distal arthrogryposis multiplex congenita (disorder) | Associated morphology | Contracture | true | Inferred relationship | Some | 1 | |
| X-linked distal arthrogryposis multiplex congenita (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked distal arthrogryposis multiplex congenita (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 2 | |
| X-linked distal arthrogryposis multiplex congenita (disorder) | Interprets | Range of joint movement | true | Inferred relationship | Some | 2 | |
| X-linked distal arthrogryposis multiplex congenita (disorder) | Finding site | Structure of joint region | true | Inferred relationship | Some | 1 | |
| X-linked distal arthrogryposis multiplex congenita (disorder) | Is a | X-linked distal hereditary motor neuropathy | true | Inferred relationship | Some | ||
| X-linked distal arthrogryposis multiplex congenita (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 3 | |
| X-linked distal arthrogryposis multiplex congenita (disorder) | Finding site | Nerve structure | true | Inferred relationship | Some | 4 | |
| X-linked distal arthrogryposis multiplex congenita (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked distal arthrogryposis multiplex congenita (disorder) | Is a | Arthrogryposis multiplex congenita | true | Inferred relationship | Some | ||
| X-linked distal arthrogryposis multiplex congenita (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 5 | |
| X-linked distal arthrogryposis multiplex congenita (disorder) | Is a | Congenital neurological disorder (disorder) | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR