Metaphyseal chondrodysplasia, Jansen type

Preferred Label : Metaphyseal chondrodysplasia, Jansen type;

ICD-11 definition : Jansen's metaphyseal chondrodysplasia (JMC) is a rare autosomal dominant chondrodysplastic syndrome characterized by short-limbed dwarfism and severe, agonist-independent hypercalcemia.;

Details

Origin ID

1652660420;

UMLS CUI

C0265295;

Currated CISMeF NLP mapping
- Jansen type metaphyseal chondrodysplasia [MeSH concept]
- Jansen type of metaphyseal chondrodysplasia [Disease (Nov.)]
- Metaphyseal Chondrodysplasia, Jansen Type [NCIt concept]
- Metaphyseal chondrodysplasia, Jansen type [ORDO Disease]
- Metaphyseal chondrodysplasia, Jansen type (disorder) [SNOMED CT concept]
- Metaphyseal chondrodysplasia, jansen type [OMIM Phenotype]
- jansen type metaphyseal chondrodysplasia [MeSH Supplementary Concept]
- metaphyseal chondrodysplasia, jansen type [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Jansen type metaphyseal chondrodysplasia [MeSH concept]
- Jansen type of metaphyseal chondrodysplasia [Disease (Nov.)]
- Metaphyseal Chondrodysplasia, Jansen Type [NCIt concept]
- Metaphyseal chondrodysplasia, Jansen type [ORDO Disease]
- Metaphyseal chondrodysplasia, Jansen type (disorder) [SNOMED CT concept]
- Metaphyseal chondrodysplasia, jansen type [OMIM Phenotype]
- jansen type metaphyseal chondrodysplasia [MeSH Supplementary Concept]
- metaphyseal chondrodysplasia, jansen type [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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