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717221005: Metaphyseal dysplasia Braun Tinschert type (disorder)


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
5401509012 Metaphyseal dysplasia, Braun-Tinschert type is 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401510019 Metaphyseal dysplasia, Braun-Tinschert type is 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
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
5401509012 Metaphyseal dysplasia, Braun-Tinschert type is 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401510019 Metaphyseal dysplasia, Braun-Tinschert type is 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3427891001000119 Dysplasie, metaphysäre, Typ Braun-Tinschert de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
935461000172113 dysplasie métaphysaire type Braun-Tinschert fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
935461000172113 dysplasie métaphysaire type Braun-Tinschert fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3427891001000119 Dysplasie, metaphysäre, Typ Braun-Tinschert de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Metaphyseal dysplasia Braun Tinschert type (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal dysplasia Braun Tinschert type (disorder) Is a Dysplasia with increased bone density true Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal dysplasia Braun Tinschert type (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal dysplasia Braun Tinschert type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal dysplasia Braun Tinschert type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Metaphyseal dysplasia Braun Tinschert type (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Metaphyseal dysplasia Braun Tinschert type (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Metaphyseal dysplasia Braun Tinschert type (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Metaphyseal dysplasia Braun Tinschert type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Metaphyseal dysplasia Braun Tinschert type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Metaphyseal dysplasia Braun Tinschert type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Metaphyseal dysplasia Braun Tinschert type (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Metaphyseal dysplasia Braun Tinschert type (disorder) Interprets Bone density scan true Inferred relationship Existential restriction modifier (core metadata concept) 2
Metaphyseal dysplasia Braun Tinschert type (disorder) Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Metaphyseal dysplasia Braun Tinschert type (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal dysplasia Braun Tinschert type (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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