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 |
| 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3861891000052116 | medfödd dödlig kontraktur typ 2 | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| 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 | true | 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 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR