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717221005: dysplasie métaphysaire type Braun-Tinschert (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3308711010 Metaphyseal dysplasia Braun Tinschert type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308712015 Metaphyseal dysplasia Braun Tinschert type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
750751000241114 dysplasie métaphysaire type Braun-Tinschert (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
935461000172113 dysplasie métaphysaire type Braun-Tinschert fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3313031010 Characterized by metaphyseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. It has been described in four German families originating from the same town in Bohemia and in a 7-year-old Japanese girl. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313032015 Characterised by metaphyseal undermodelling with broadening of the long bones and femora with an 'Erlenmeyer flask' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. It has been described in four German families originating from the same town in Bohemia and in a 7-year-old Japanese girl. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Metaphyseal dysplasia Braun Tinschert type (disorder) localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 1
Metaphyseal dysplasia Braun Tinschert type (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Metaphyseal dysplasia Braun Tinschert type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Metaphyseal dysplasia Braun Tinschert type (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Metaphyseal dysplasia Braun Tinschert type (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Metaphyseal dysplasia Braun Tinschert type (disorder) interprète (attribut) ostéodensitométrie true Inferred relationship Some 2
Metaphyseal dysplasia Braun Tinschert type (disorder) a pour interprétation (attribut) au-dessus de l'étendue de référence true Inferred relationship Some 2
Metaphyseal dysplasia Braun Tinschert type (disorder) est un(e) (attribut) Congenital anomaly of skeletal bone true Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type (disorder) est un(e) (attribut) Dysplasia with increased bone density true Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Metaphyseal dysplasia Braun Tinschert type (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Metaphyseal dysplasia Braun Tinschert type (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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