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773302000: Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder)


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
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
3723045013 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
3723046014 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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Finding site Entire tooth false Inferred relationship Some 3
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Associated morphology Congenital abnormal number true Inferred relationship Some 3
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Is a Anodontia false Inferred relationship Some
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Is a Partial congenital absence of teeth false Inferred relationship Some
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Is a Spondyloepimetaphyseal disorder true Inferred relationship Some
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Finding site Entire tooth false Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Finding site Bone structure true Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 4
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Is a Developmental absence of tooth true Inferred relationship Some
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Finding site Dentition true Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Finding site Tooth structure true Inferred relationship Some 3
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Is a Oligodontia true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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