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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | est un(e) (attribut) | Skeletal dysplasia | true | Inferred relationship | Some | ||
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with early overgrowth (disorder) | true | Inferred relationship | Some | ||
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | interprète (attribut) | mesure de la taille corporelle | true | Inferred relationship | Some | 3 | |
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 3 | |
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | Skeletal system structure | true | Inferred relationship | Some | 1 | |
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | morphologie associée (attribut) | dysplasie | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 2 | |
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets