Metaphyseal undermodeling, spondylar dysplasia, and overgrowth

Preferred Label : Metaphyseal undermodeling, spondylar dysplasia, and overgrowth;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Endochondral gigantism; MNS; Mns syndrome; Nishimura-schmidt syndrome; Moreno-nishimura-schmidt syndrome;

Prefixed ID : 608811;

Détails

Origin ID

608811;

UMLS CUI

C1837316;

Automatic exact mappings (from CISMeF team)
- FLNA wt Allele [NCIt concept]
- GYPA wt Allele [NCIt concept]
- GYPB wt Allele [NCIt concept]
CISMeF manual mappings
- Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) [SNOMED CT concept]
- metaphyseal undermodeling, spondylar dysplasia, and overgrowth [MeSH concept]
- metaphyseal undermodeling, spondylar dysplasia, and overgrowth [MeSH Supplementary Concept]
ORDO concept(s)
- Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) [SNOMED CT concept]
- Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome [ORDO Disease]
- metaphyseal undermodeling, spondylar dysplasia, and overgrowth [MeSH Supplementary Concept]
- metaphyseal undermodeling, spondylar dysplasia, and overgrowth [MeSH concept]

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