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717221005: Metaphyseal dysplasia Braun Tinschert type (disorder)


Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core
3308712015 Metaphyseal dysplasia Braun Tinschert type en Synonym Active Initial character case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Metaphyseal dysplasia Braun Tinschert type Finding site Bone structure true Inferred relationship Some 1
Metaphyseal dysplasia Braun Tinschert type Occurrence Congenital true Inferred relationship Some 1
Metaphyseal dysplasia Braun Tinschert type Pathological process Pathological developmental process true Inferred relationship Some 1
Metaphyseal dysplasia Braun Tinschert type Associated morphology Congenital dysplasia false Inferred relationship Some 1
Metaphyseal dysplasia Braun Tinschert type Associated morphology Dysplasia true Inferred relationship Some 1
Metaphyseal dysplasia Braun Tinschert type Interprets Bone density scan true Inferred relationship Some 2
Metaphyseal dysplasia Braun Tinschert type Has interpretation Above reference range true Inferred relationship Some 2
Metaphyseal dysplasia Braun Tinschert type Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type Is a Developmental hereditary disorder true Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type Is a Dysplasia with increased bone density true Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type Is a Inherited disorder of connective tissue false Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type Associated morphology Congenital dysplasia false Inferred relationship Some 2
Metaphyseal dysplasia Braun Tinschert type Occurrence Congenital false Inferred relationship Some 2
Metaphyseal dysplasia Braun Tinschert type Finding site Bone structure false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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