Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3302543019 | Lethal congenital contracture syndrome type 2 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302544013 | Lethal congenital contracture syndrome type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302545014 | Multiple contracture syndrome Israeli-Bedouin type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5400868016 | Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400869012 | Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterised by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Lethal congenital contracture syndrome type 2 (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Lethal congenital contracture syndrome type 2 (disorder) | Is a | Arthrogryposis | false | Inferred relationship | Some | ||
| Lethal congenital contracture syndrome type 2 (disorder) | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Lethal congenital contracture syndrome type 2 (disorder) | Associated morphology | Contracture | false | Inferred relationship | Some | 1 | |
| Lethal congenital contracture syndrome type 2 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Lethal congenital contracture syndrome type 2 (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 1 | |
| Lethal congenital contracture syndrome type 2 (disorder) | Finding site | Structure of joint region | true | Inferred relationship | Some | 2 | |
| Lethal congenital contracture syndrome type 2 (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Lethal congenital contracture syndrome type 2 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Lethal congenital contracture syndrome type 2 (disorder) | Associated morphology | Contracture | true | Inferred relationship | Some | 2 | |
| Lethal congenital contracture syndrome type 2 (disorder) | Interprets | Range of joint movement | true | Inferred relationship | Some | 3 | |
| Lethal congenital contracture syndrome type 2 (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Lethal congenital contracture syndrome type 2 (disorder) | Is a | Akinesia | true | Inferred relationship | Some | ||
| Lethal congenital contracture syndrome type 2 (disorder) | Is a | Congenital anomaly of skeletal muscle | true | Inferred relationship | Some | ||
| Lethal congenital contracture syndrome type 2 (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 3 | |
| Lethal congenital contracture syndrome type 2 (disorder) | Is a | Muscle atrophy | true | Inferred relationship | Some | ||
| Lethal congenital contracture syndrome type 2 (disorder) | Is a | Inherited arthrogryposis | true | Inferred relationship | Some | ||
| Lethal congenital contracture syndrome type 2 (disorder) | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 | |
| Lethal congenital contracture syndrome type 2 (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Lethal congenital contracture syndrome type 2 (disorder) | Finding site | Joint structure of multiple body sites (body structure) | true | Inferred relationship | Some | 4 | |
| Lethal congenital contracture syndrome type 2 (disorder) | Associated morphology | Contracture | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR