jansen type metaphyseal chondrodysplasia

Preferred Label : jansen type metaphyseal chondrodysplasia;

MeSH synonym : metaphyseal chondrodysplasia murk jansen type; murk jansen type metaphyseal chondrodysplasia; metaphyseal chondrodysplasia, murk jansen type; metaphyseal chondrodysplasia, jansen type;

Details

Origin ID

C537564;

UMLS CUI

C0265295;

Automatic exact mappings (from CISMeF team)
- Jansen's metaphyseal chondrodysplasia [DO Concept]
Currated CISMeF NLP mapping
- Jansen type of metaphyseal chondrodysplasia [Disease (Nov.)]
- Metaphyseal Chondrodysplasia, Jansen Type [NCIt concept]
- Metaphyseal chondrodysplasia, Jansen type [ICD-11 More detail]
- Metaphyseal chondrodysplasia, Jansen type [ORDO Disease]
- Metaphyseal chondrodysplasia, Jansen type (disorder) [SNOMED CT concept]
- Metaphyseal chondrodysplasia, jansen type [OMIM Phenotype]
- metaphyseal chondrodysplasia, jansen type [SNOMED Notion]
Has phenotype(s) (HPO)
- Deafness [HPO term]
- Knee contractures [HPO term]
- Parathyroid hormone absent to low [HPO term]
- Prominent eyes [HPO term]
MeSH term(s) associated for indexing
- osteochondrodysplasias [MeSH Descriptor]
ORDO relation(s)
- Metaphyseal chondrodysplasia, Jansen type [ORDO Disease]
Record concept(s)
- Jansen type metaphyseal chondrodysplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Jansen type of metaphyseal chondrodysplasia [Disease (Nov.)]
- Metaphyseal Chondrodysplasia, Jansen Type [NCIt concept]
- Metaphyseal chondrodysplasia, Jansen type [ORDO Disease]
- Metaphyseal chondrodysplasia, Jansen type [ICD-11 More detail]
- Metaphyseal chondrodysplasia, Jansen type (disorder) [SNOMED CT concept]
- Metaphyseal chondrodysplasia, jansen type [OMIM Phenotype]
- metaphyseal chondrodysplasia, jansen type [SNOMED Notion]

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