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 |
| 3321493010 | The association of limb defects and multivisceral anomalies. The syndrome has been reported in eight infants from four different families. Skeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalized hydrops, polycystic kidneys, pancreas and liver, fibrotic liver or pancreas, polysplenia, heterotaxia, hypoplastic lung, short bowel. All newborns reported so far were either stillborn or died shortly after birth. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3321494016 | The association of limb defects and multivisceral anomalies. The syndrome has been reported in eight infants from four different families. Skeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalised hydrops, polycystic kidneys, pancreas and liver, fibrotic liver or pancreas, polysplenia, heterotaxia, hypoplastic lung, short bowel. All newborns reported so far were either stillborn or died shortly after birth. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402420011 | Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402421010 | Campomelia, Cumming type, is characterised by the association of limb defects and multivisceral anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3321490013 | Campomelia Cumming type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3321491012 | Campomelia Cumming type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3321492017 | Cumming syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Associated morphology | Lymphatic edema | true | Inferred relationship | Some | 3 | |
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Is a | Congenital anomaly of limb | true | Inferred relationship | Some | ||
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Is a | Hereditary lymphedema | false | Inferred relationship | Some | ||
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Is a | Knogledeformitet | false | Inferred relationship | Some | ||
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Is a | Bent bone dysplasia group | true | Inferred relationship | Some | ||
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Is a | Deformity of limb (finding) | true | Inferred relationship | Some | ||
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Associated morphology | Congenital abnormal curvature | false | Inferred relationship | Some | 4 | |
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Finding site | Bone structure of extremity | false | Inferred relationship | Some | 4 | |
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 5 | |
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Finding site | Bone structure | false | Inferred relationship | Some | 5 | |
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Finding site | Bone structure of extremity | true | Inferred relationship | Some | 2 | |
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 1 | |
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Associated morphology | Congenital abnormal curvature | true | Inferred relationship | Some | 2 | |
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Is a | Congenital deformity | false | Inferred relationship | Some | ||
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Is a | Lymphoedema | true | Inferred relationship | Some | ||
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Is a | Deformation of bone | true | Inferred relationship | Some | ||
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. | Is a | Congenital deformity of musculoskeletal system (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR