Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2026. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 6156416014 | GCP-CGS - Greig cephalopolysyndactyly, contiguous gene syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6156417017 | Greig cephalopolysyndactyly, contiguous gene syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6156418010 | Greig cephalopolysyndactyly, contiguous gene syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6156419019 | A rare multiple congenital anomalies/dysmorphic syndrome characterized by polydactyly, syndactyly (pre or post‑axial polydactyly of hands and/or feet with variable cutaneous syndactyly), craniofacial features (including macrocephaly, frontal bossing, hypertelorism and broad nasal bridge) that are similar to those observed in patients with Greig cephalopolysyndactyly syndrome, as well as clear developmental delay, moderate to severe intellectual disability, seizures and structural brain abnormalities including agenesis/hypoplasia of the corpus callosum. Additional central nervous system anomalies may include ventriculomegaly, aqueductal stenosis and other midline defects. Patients present with larger microdeletions that encompass the GLI3 gene and depending on the size of the deletion, additional clinical features such as hernias and hyperglycemia may be present. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6156420013 | A rare multiple congenital anomalies/dysmorphic syndrome characterised by polydactyly, syndactyly (pre or post‑axial polydactyly of hands and/or feet with variable cutaneous syndactyly), craniofacial features (including macrocephaly, frontal bossing, hypertelorism and broad nasal bridge) that are similar to those observed in patients with Greig cephalopolysyndactyly syndrome, as well as clear developmental delay, moderate to severe intellectual disability, seizures and structural brain abnormalities including agenesis/hypoplasia of the corpus callosum. Additional central nervous system anomalies may include ventriculomegaly, aqueductal stenosis and other midline defects. Patients present with larger microdeletions that encompass the GLI3 gene and depending on the size of the deletion, additional clinical features such as hernias and hyperglycaemia may be present. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Greig cephalopolysyndactyly, contiguous gene syndrome (disorder) | Is a | Skeletal dysplasia | true | Inferred relationship | Some | ||
| Greig cephalopolysyndactyly, contiguous gene syndrome (disorder) | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
| Greig cephalopolysyndactyly, contiguous gene syndrome (disorder) | Is a | Developmental delay | true | Inferred relationship | Some | ||
| Greig cephalopolysyndactyly, contiguous gene syndrome (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Greig cephalopolysyndactyly, contiguous gene syndrome (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Greig cephalopolysyndactyly, contiguous gene syndrome (disorder) | Is a | Lesion of bone | true | Inferred relationship | Some | ||
| Greig cephalopolysyndactyly, contiguous gene syndrome (disorder) | Is a | Congenital dysplasia of limb (disorder) | true | Inferred relationship | Some | ||
| Greig cephalopolysyndactyly, contiguous gene syndrome (disorder) | Is a | Structural abnormality of bone of limb (disorder) | true | Inferred relationship | Some | ||
| Greig cephalopolysyndactyly, contiguous gene syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Greig cephalopolysyndactyly, contiguous gene syndrome (disorder) | Finding site | Bone structure of limb | true | Inferred relationship | Some | 1 | |
| Greig cephalopolysyndactyly, contiguous gene syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Greig cephalopolysyndactyly, contiguous gene syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Greig cephalopolysyndactyly, contiguous gene syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Greig cephalopolysyndactyly, contiguous gene syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
| Greig cephalopolysyndactyly, contiguous gene syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Greig cephalopolysyndactyly, contiguous gene syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR