Metaphyseal acroscyphodysplasia

Preferred Label : Metaphyseal acroscyphodysplasia;

ICD-11 definition : Metaphyseal acroscyphodysplasia is a bone dysplasia characterized by severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly and typical cup-shaped, large metaphyses.;

Details

Origin ID

1994645064;

UMLS CUI

C1855243;

Currated CISMeF NLP mapping
- Metaphyseal acroscyphodysplasia [ORDO Disease]
- Metaphyseal acroscyphodysplasia [OMIM Phenotype]
- Metaphyseal acroscyphodysplasia [MeSH concept]
- metaphyseal acroscyphodysplasia [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Bellini Chiumello Rimoldi syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metaphyseal acroscyphodysplasia [OMIM Phenotype]
- Metaphyseal acroscyphodysplasia [MeSH concept]
- Metaphyseal acroscyphodysplasia [ORDO Disease]
- metaphyseal acroscyphodysplasia [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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