micromelic dwarfism fryns type

Preferred Label : micromelic dwarfism fryns type;

MeSH synonym : micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects; spondyloepimetaphyseal dysplasia, micromelic; dwarfism, micromelic, with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects;

Details

Origin ID

C537556;

UMLS CUI

C1832800;

Currated CISMeF NLP mapping
- Micromelic dwarfism Fryn type (disorder) [SNOMED CT concept]
- Micromelic dwarfism, Fryns type [ICD-11 More detail]
- Micromelic dwarfism, Fryns type [ORDO Disease]
- Micromelic spondyloepimetaphyseal dysplasia (disorder) [Inactive SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, micromelic [OMIM Phenotype]
MeSH term(s) associated for indexing
- osteochondrodysplasias [MeSH Descriptor]
ORDO relation(s)
- Micromelic dwarfism, Fryns type [ORDO Disease]
Record concept(s)
- Micromelic dwarfism Fryns type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Micromelic dwarfism Fryn type (disorder) [SNOMED CT concept]
- Micromelic dwarfism, Fryns type [ORDO Disease]
- Micromelic dwarfism, Fryns type [ICD-11 More detail]
- Micromelic spondyloepimetaphyseal dysplasia (disorder) [Inactive SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, micromelic [OMIM Phenotype]

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