desbuquois syndrome

Preferred Label : desbuquois syndrome;

MeSH note : Micromelic Dwarfism with Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification;

MeSH synonym : micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification; desbuquois dysplasia;

Details

Origin ID

C535943;

UMLS CUI

C0432242;

Automatic exact mappings (from CISMeF team)
- Desbuquois syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Desbuquois Dysplasia [NCIt concept]
- Desbuquois dysplasia [DO Concept]
- Desbuquois dysplasia [OMIM phenotypic series]
- Desbuquois syndrome [Disease (Nov.)]
- Desbuquois syndrome [ORDO Disease]
- Desbuquois syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Desbuquois dysplasia [DO Concept]
MeSH term(s) associated for indexing
- craniofacial abnormalities [MeSH Descriptor]
- dwarfism [MeSH Descriptor]
- joint instability [MeSH Descriptor]
- ossification, heterotopic [MeSH Descriptor]
- polydactyly [MeSH Descriptor]
ORDO relation(s)
- Desbuquois syndrome [ORDO Disease]
Record concept(s)
- Desbuquois syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Desbuquois Dysplasia [NCIt concept]
- Desbuquois dysplasia [DO Concept]
- Desbuquois syndrome [ORDO Disease]
- Desbuquois syndrome (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Desbuquois dysplasia 1 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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