epiphyseal dysplasia, multiple, 5

Preferred Label : epiphyseal dysplasia, multiple, 5;

MeSH synonym : multiple epiphyseal dysplasia, MATN3 related; multiple epiphyseal dysplasia 5; microepiphyseal dysplasia, bilateral hereditary; multiple epiphyseal dysplasia, Matn3-Related;

Détails

Origin ID

C535505;

UMLS CUI

C1846843;

Automatic exact mappings (from CISMeF team)
- Multiple epiphyseal dysplasia type 5 [ICD-11 More detail]
- multiple epiphyseal dysplasia 5 [DO Concept]
CISMeF manual mappings
- Multiple epiphyseal dysplasia type 5 [ORDO Disease]
Currated CISMeF NLP mapping
- Epiphyseal dysplasia, multiple, 5 [OMIM Phenotype]
- Multiple epiphyseal dysplasia type 5 (disorder) [SNOMED CT concept]
DO Cross reference
- multiple epiphyseal dysplasia 5 [DO Concept]
MeSH term(s) associated for indexing
- osteochondrodysplasias [MeSH Descriptor]
ORDO relation(s)
- Multiple epiphyseal dysplasia type 5 [ORDO Disease]
Record concept(s)
- Epiphyseal dysplasia, multiple, 5 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epiphyseal dysplasia, multiple, 5 [OMIM Phenotype]
- Multiple epiphyseal dysplasia type 5 [ORDO Disease]
- Multiple epiphyseal dysplasia type 5 (disorder) [SNOMED CT concept]
- multiple epiphyseal dysplasia 5 [DO Concept]

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