Braun-Tinschert metaphyseal dysplasia

Preferred Label : Braun-Tinschert metaphyseal dysplasia;

ICD-11 definition : Metaphyseal dysplasia, Braun-Tinschert type is a genetic skeletal dysplasia characterised by metapyhseal 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.;

Details

Origin ID

523885087;

UMLS CUI

C1853825;

CISMeF manual mappings
- metaphyseal dysplasia, Braun-Tinschert type [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Metaphyseal dysplasia Braun Tinschert type (disorder) [SNOMED CT concept]
- Metaphyseal dysplasia, Braun-Tinschert type [ORDO Disease]
- Metaphyseal dysplasia, braun-tinschert type [OMIM Phenotype]
- metaphyseal dysplasia, Braun-Tinschert type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metaphyseal dysplasia Braun Tinschert type (disorder) [SNOMED CT concept]
- Metaphyseal dysplasia, Braun-Tinschert type [ORDO Disease]
- Metaphyseal dysplasia, braun-tinschert type [OMIM Phenotype]
- metaphyseal dysplasia, Braun-Tinschert type [MeSH concept]
- metaphyseal dysplasia, Braun-Tinschert type [MeSH Supplementary Concept]

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