nievergelt syndrome

Preferred Label : nievergelt syndrome;

MeSH note : Radioulnar synostosis and a typical rhomboid shape of the tibia and fibula;

MeSH synonym : mesomelic dwarfism nievergelt type; mesomelic dysplasia, nievergelt type;

Details

Origin ID

C536120;

UMLS CUI

C0432231;

Currated CISMeF NLP mapping
- Mesomelic dwarfism, Nievergelt type [ICD-11 More detail]
- Mesomelic dysplasia, Nievergelt type [ORDO Disease]
- Nievergelt syndrome [OMIM Phenotype]
- Nievergelt's syndrome (disorder) [SNOMED CT concept]
- nievergelt syndrome [Disease (Nov.)]
- nievergelt's syndrome [SNOMED Notion]
Has phenotype(s) (HPO)
- Dwarfism, short limb mesomelic [HPO term]
- Low intelligence [HPO term]
MeSH term(s) associated for indexing
- dwarfism [MeSH Descriptor]
- leg [MeSH Descriptor]
- limb deformities, congenital [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- Nievergelt syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mesomelic dysplasia, Nievergelt type [ORDO Disease]
- Nievergelt syndrome [OMIM Phenotype]
- Nievergelt's syndrome (disorder) [SNOMED CT concept]
- nievergelt syndrome [Disease (Nov.)]
- nievergelt's syndrome [SNOMED Notion]

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