Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4607811018 | Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4607812013 | Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4607813015 | Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4607814014 | A rare overgrowth syndrome with skeletal involvement and characteristics of pre or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodelling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4607815010 | A rare overgrowth syndrome with skeletal involvement and characteristics of pre or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5342121000052118 | syndrom med överväxt, metafyseal undermodellering och spondylär dysplasi | 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 |
| Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | Is a | Skeletal dysplasia | true | Inferred relationship | Some | ||
| Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | Is a | Multiple malformation syndrome with early overgrowth | true | Inferred relationship | Some | ||
| Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | Interprets | Body height measure (observable entity) | true | Inferred relationship | Some | 3 | |
| Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 3 | |
| Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | Finding site | Skeletal system structure | true | Inferred relationship | Some | 1 | |
| Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | Is a | Body measurement finding | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR