epiphyseal dysplasia, multiple, 4

Preferred Label : epiphyseal dysplasia, multiple, 4;

MeSH synonym : multiple epiphyseal dysplasia 4; multiple epiphyseal dysplasia, autosomal recessive; multiple epiphyseal dysplasia with clubfoot; multiple epiphyseal dysplasia with double-layered patella; autosomal recessive multiple epiphyseal dysplasia; multiple epiphyseal dysplasia with bilayered patellae;

Details

Origin ID

C535504;

UMLS CUI

C1847593;

Automatic exact mappings (from CISMeF team)
- Multiple epiphyseal dysplasia type 4 [ICD-11 More detail]
- multiple epiphyseal dysplasia 4 [DO Concept]
CISMeF manual mappings
- Multiple epiphyseal dysplasia type 4 [ORDO Disease]
Currated CISMeF NLP mapping
- Epiphyseal dysplasia, multiple, 4 [OMIM Phenotype]
- Multiple epiphyseal dysplasia type 4 (disorder) [SNOMED CT concept]
DO Cross reference
- multiple epiphyseal dysplasia 4 [DO Concept]
MeSH term(s) associated for indexing
- osteochondrodysplasias [MeSH Descriptor]
- patella [MeSH Descriptor]
ORDO relation(s)
- Multiple epiphyseal dysplasia type 4 [ORDO Disease]
Record concept(s)
- Epiphyseal dysplasia, multiple, 4 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epiphyseal dysplasia, multiple, 4 [OMIM Phenotype]
- Multiple epiphyseal dysplasia type 4 [ORDO Disease]
- Multiple epiphyseal dysplasia type 4 (disorder) [SNOMED CT concept]
- multiple epiphyseal dysplasia 4 [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

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