Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5033739014 | Progeroid features, hepatocellular carcinoma predisposition syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5033740011 | Ruijs Aalfs syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5033741010 | Progeroid features, hepatocellular carcinoma predisposition syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5033742015 | A rare inherited cancer-predisposing syndrome with characteristics of early-onset hepatocellular carcinoma, genomic instability and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts and premature hair graying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly and pes planus have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5033743013 | A rare inherited cancer-predisposing syndrome with characteristics of early-onset hepatocellular carcinoma, genomic instability and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts and premature hair greying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly and pes planus have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5633691000052113 | syndrom med progeroida kännetecken och predisposition för hepatocellulärt karcinom | 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 |
| Progeroid features, hepatocellular carcinoma predisposition syndrome | Is a | Premature aging syndrome (disorder) | true | Inferred relationship | Some | ||
| Progeroid features, hepatocellular carcinoma predisposition syndrome | Is a | Hereditary cancer-predisposing syndrome | true | Inferred relationship | Some | ||
| Progeroid features, hepatocellular carcinoma predisposition syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Progeroid features, hepatocellular carcinoma predisposition syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Progeroid features, hepatocellular carcinoma predisposition syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR