Spondyloepimetaphyseal dysplasia, micromelic

Preferred Label : Spondyloepimetaphyseal dysplasia, micromelic;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Dwarfism, micromelic, with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects; Semd, micromelic;

Inheritance : ?Autosomal recessive;

Prefixed ID : 601096;

Details

Origin ID

601096;

UMLS CUI

C1832800;

Currated CISMeF NLP mapping
- Micromelic dwarfism Fryn type (disorder) [SNOMED CT concept]
- Micromelic dwarfism Fryns type [MeSH concept]
- Micromelic dwarfism, Fryns type [ORDO Disease]
- Micromelic dwarfism, Fryns type [ICD-11 More detail]
- Micromelic spondyloepimetaphyseal dysplasia (disorder) [Inactive SNOMED CT concept]
- micromelic dwarfism fryns type [MeSH Supplementary Concept]
HPO term(s)
- Marked micromelic dwarfism [HPO term]
ORDO concept(s)
- Micromelic dwarfism, Fryns type [ORDO Disease]
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 [MeSH concept]
- Micromelic dwarfism, Fryns type [ORDO Disease]
- Micromelic dwarfism, Fryns type [ICD-11 More detail]
- Micromelic spondyloepimetaphyseal dysplasia (disorder) [Inactive SNOMED CT concept]
- micromelic dwarfism fryns type [MeSH Supplementary Concept]

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