Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
| 3302544013 | Lethal congenital contracture syndrome type 2 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3302545014 | Multiple contracture syndrome Israeli-Bedouin type | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3302546010 | Autosomal recessive disorder originally described in Finnish families. Diagnostic criteria are early fetal hydrops and akinesia, specific neuropathology with degeneration of anterior horn neurons, and extreme skeletal muscle atrophy. The Israeli-Bedouin pedigree is characterized by congenital contractures and additional unique phenotypic abnormalities, suggesting it represents a novel variant of autosomal recessive LCCS. Features distinguishing the novel disorder, LCCS2, from the Finnish type of LCCS included additional craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy. The major unique and previously undescribed clinical feature in the Israeli Bedouin disorder is markedly distended urinary bladder. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3302547018 | Autosomal recessive disorder originally described in Finnish families. Diagnostic criteria are early foetal hydrops and akinesia, specific neuropathology with degeneration of anterior horn neurons, and extreme skeletal muscle atrophy. The Israeli-Bedouin pedigree is characterised by congenital contractures and additional unique phenotypic abnormalities, suggesting it represents a novel variant of autosomal recessive LCCS. Features distinguishing the novel disorder, LCCS2, from the Finnish type of LCCS included additional craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy. The major unique and previously undescribed clinical feature in the Israeli Bedouin disorder is markedly distended urinary bladder. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Lethal congenital contracture syndrome type 2 | Finding site | Structure of joint region | true | Inferred relationship | Some | 2 | |
| Lethal congenital contracture syndrome type 2 | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Lethal congenital contracture syndrome type 2 | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Lethal congenital contracture syndrome type 2 | Associated morphology | Contracture | true | Inferred relationship | Some | 2 | |
| Lethal congenital contracture syndrome type 2 | Interprets | Range of joint movement | true | Inferred relationship | Some | 3 | |
| Lethal congenital contracture syndrome type 2 | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Lethal congenital contracture syndrome type 2 | Is a | Akinesia | true | Inferred relationship | Some | ||
| Lethal congenital contracture syndrome type 2 | Is a | Congenital anomaly of skeletal muscle | true | Inferred relationship | Some | ||
| Lethal congenital contracture syndrome type 2 | Has interpretation | Decreased | true | Inferred relationship | Some | 3 | |
| Lethal congenital contracture syndrome type 2 | Is a | Muscle atrophy | true | Inferred relationship | Some | ||
| Lethal congenital contracture syndrome type 2 | Is a | Inherited arthrogryposis | true | Inferred relationship | Some | ||
| Lethal congenital contracture syndrome type 2 | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 | |
| Lethal congenital contracture syndrome type 2 | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Lethal congenital contracture syndrome type 2 | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Lethal congenital contracture syndrome type 2 | Is a | Arthrogryposis | false | Inferred relationship | Some | ||
| Lethal congenital contracture syndrome type 2 | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Lethal congenital contracture syndrome type 2 | Associated morphology | Contracture | false | Inferred relationship | Some | 1 | |
| Lethal congenital contracture syndrome type 2 | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Lethal congenital contracture syndrome type 2 | Finding site | Joint structure | false | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set
FHIR