megaepiphyseal dwarfism

Preferred Label : megaepiphyseal dwarfism;

CISMeF synonym : chondrodystrophy with sensorineural deafness;

MeSH synonym : mega-epiphyseal dwarfism;

MeSH hyponym : Insley-Astley syndrome; Otospondylomegaepiphyseal dysplasia; Nance-Sweeney Chondrodysplasia; Oto-Spondylo-Mega-Epiphyseal Dysplasia; Oto-Spondylo-Megaepiphyseal Dysplasia; Nance Sweeney chondrodysplasia; Nance-Insley syndrome;

Details

Origin ID

C536140;

UMLS CUI

C1855310;

Automatic exact mappings (from CISMeF team)
- Otospondylomegaepiphyseal dysplasia [ORDO Disease]
- Otospondylomegaepiphyseal dysplasia [MedDRA Preferred Term]
- Otospondylomegaepiphyseal dysplasia (disorder) [SNOMED CT concept]
- Otospondylomegaepiphyseal dysplasia, autosomal recessive [OMIM Phenotype]
- otospondylomegaepiphyseal dysplasia, autosomal recessive [DO Concept]
Currated CISMeF NLP mapping
- Megaepiphyseal dwarfism [OMIM Phenotype]
Has phenotype(s) (HPO)
- Unusual facies [HPO term]
MeSH term(s) associated for indexing
- dwarfism [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- Chondrodystrophy with Sensorineural Deafness [MeSH concept]
- Megaepiphyseal dwarfism [MeSH concept]
See also inter- (CISMeF)
- Otospondylomegaepiphyseal dysplasia [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Megaepiphyseal dwarfism [OMIM Phenotype]
- Otospondylomegaepiphyseal dysplasia [ORDO Disease]
- Otospondylomegaepiphyseal dysplasia, autosomal recessive [OMIM Phenotype]

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