Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
1817851000168117 | Infantile onset X-linked spinal muscular atrophy | en | Synonym | Active | Initial character case insensitive | SNOMED Clinical Terms Australian extension |
3318104013 | X-linked distal arthrogryposis multiplex congenita (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
3318105014 | X-linked distal arthrogryposis multiplex congenita | en | Synonym | Active | Case sensitive | SNOMED CT core |
3318106010 | Spinal muscular atrophy with arthrogryposis | en | Synonym | Active | Case insensitive | SNOMED CT core |
3318107018 | X-linked spinal muscular atrophy type 2 | en | Synonym | Active | Case sensitive | SNOMED CT core |
4578747016 | Infantile-onset X-linked spinal muscular atrophy | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
X-linked distal arthrogryposis multiplex congenita | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
X-linked distal arthrogryposis multiplex congenita | Finding site | Joint structure | false | Inferred relationship | Some | 1 | |
X-linked distal arthrogryposis multiplex congenita | Associated morphology | Contracture | true | Inferred relationship | Some | 1 | |
X-linked distal arthrogryposis multiplex congenita | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
X-linked distal arthrogryposis multiplex congenita | Has interpretation | Decreased | true | Inferred relationship | Some | 2 | |
X-linked distal arthrogryposis multiplex congenita | Interprets | Range of joint movement | true | Inferred relationship | Some | 2 | |
X-linked distal arthrogryposis multiplex congenita | Finding site | Structure of joint region | true | Inferred relationship | Some | 1 | |
X-linked distal arthrogryposis multiplex congenita | Is a | X-linked distal hereditary motor neuropathy | true | Inferred relationship | Some | ||
X-linked distal arthrogryposis multiplex congenita | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 3 | |
X-linked distal arthrogryposis multiplex congenita | Finding site | Nerve structure | true | Inferred relationship | Some | 4 | |
X-linked distal arthrogryposis multiplex congenita | Is a | Spinal muscular atrophy | true | Inferred relationship | Some | ||
X-linked distal arthrogryposis multiplex congenita | Is a | Inherited arthrogryposis | true | Inferred relationship | Some | ||
X-linked distal arthrogryposis multiplex congenita | Is a | Amyoplasia congenita disruptive sequence | true | Inferred relationship | Some | ||
X-linked distal arthrogryposis multiplex congenita | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
X-linked distal arthrogryposis multiplex congenita | Finding site | Structure of nervous system | false | Inferred relationship | Some | 3 | |
X-linked distal arthrogryposis multiplex congenita | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
X-linked distal arthrogryposis multiplex congenita | Finding site | Joint structure | false | Inferred relationship | Some | 3 | |
X-linked distal arthrogryposis multiplex congenita | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
X-linked distal arthrogryposis multiplex congenita | Finding site | Joint structure | false | Inferred relationship | Some | 4 | |
X-linked distal arthrogryposis multiplex congenita | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 3 | |
X-linked distal arthrogryposis multiplex congenita | Associated morphology | Contracture | false | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set