Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5405195014 | Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5405196010 | Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterised by the association of dental anomalies (oligodontia with pointed incisors) and generalised platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3723043018 | Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3723044012 | Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
1012101000172112 | syndrome de dysplasie spondylo-épimétaphysaire-dentition anormale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3381111001000112 | Spondyloepimetaphysäre Dysplasie mit gestörter Zahnentwicklung | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Finding site | Entire tooth | false | Inferred relationship | Some | 3 | |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Associated morphology | Congenital abnormal number | false | Inferred relationship | Some | 3 | |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Is a | Anodontia | false | Inferred relationship | Some | ||
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Is a | Partial congenital absence of teeth | false | Inferred relationship | Some | ||
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Is a | Spondyloepimetaphyseal disorder | true | Inferred relationship | Some | ||
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Associated morphology | Congenital absence | false | Inferred relationship | Some | 2 | |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Finding site | Entire tooth | false | Inferred relationship | Some | 2 | |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 | |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Is a | Developmental absence of tooth | true | Inferred relationship | Some | ||
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Finding site | Dentition | true | Inferred relationship | Some | 2 | |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Finding site | Tooth structure | true | Inferred relationship | Some | 3 | |
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Is a | Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth. | true | Inferred relationship | Some | ||
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. | Associated morphology | Abnormal number (morphologic abnormality) | 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)