leri pleonosteosis

Preferred Label : leri pleonosteosis;

MeSH note : Short stature, mongoloid facies, short spadelike hands, broad thumbs, genu recurvatum, thick palmar and forearm fasciae, shuffling short-stepped gait;

MeSH synonym : leri's pleonosteosis; leri type pleonosteosis;

Details

Origin ID

C537118;

UMLS CUI

C1835450;

Automatic exact mappings (from CISMeF team)
- Other specified osteochondrodysplasias [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Chromosome 8q22.1 duplication syndrome [OMIM Phenotype]
- Leri pleonosteosis [ORDO Disease]
- leri pleonosteosis [Disease (Nov.)]
Has phenotype(s) (HPO)
- Broad phalanges of the thumb [HPO term]
MeSH term(s) associated for indexing
- facies [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- joint diseases [MeSH Descriptor]
- ossification, heterotopic [MeSH Descriptor]
ORDO relation(s)
- Leri pleonosteosis [ORDO Disease]
Record concept(s)
- Leri pleonosteosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 8q22.1 duplication syndrome [OMIM Phenotype]
- Leri pleonosteosis [ORDO Disease]
- leri pleonosteosis [Disease (Nov.)]

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