Metatropic dwarfism

Preferred Label : Metatropic dwarfism;

ICD-11 definition : Metatropic dysplasia is a severe spondyloepimetaphyseal dysplasia characterised in infancy by long trunk and short extremities.;

Details

Origin ID

1477471857;

UMLS CUI

C0265281;

Currated CISMeF NLP mapping
- Metatropic Dysplasia [NCIt concept]
- Metatropic dwarfism [PASCAL descriptor]
- Metatropic dwarfism [MeSH concept]
- Metatropic dwarfism [MedDRA LLT]
- Metatropic dysplasia [OMIM Phenotype]
- metatropic dwarfism [MeSH Supplementary Concept]
- metatropic dysplasia [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
Validated automatic mappings to NTBT
- Metatropic dysplasia [ORDO Disease]
- Metatropic dysplasia (disorder) [SNOMED CT concept]
- Metatropic dysplasias [ORDO Disease]
- metatrophic dysplasia [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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