metaphyseal acroscyphodysplasia

Preferred Label : metaphyseal acroscyphodysplasia;

MeSH note : Cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly;

MeSH synonym : wedge-shaped epiphyses of knees;

Details

Origin ID

C537350;

UMLS CUI

C1855243;

Currated CISMeF NLP mapping
- Metaphyseal acroscyphodysplasia [ICD-11 More detail]
- Metaphyseal acroscyphodysplasia [OMIM Phenotype]
- Metaphyseal acroscyphodysplasia [ORDO Disease]
Has phenotype(s) (HPO)
- Broad nasal root [HPO term]
- Hypoplasia of the toes [HPO term]
- Mild humeral shortening [HPO term]
- Severe brachydactyly [HPO term]
MeSH term(s) associated for indexing
- epiphyses [MeSH Descriptor]
- exostoses, multiple hereditary [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- knee [MeSH Descriptor]
ORDO relation(s)
- Metaphyseal acroscyphodysplasia [ORDO Disease]
Record concept(s)
- Metaphyseal acroscyphodysplasia [MeSH concept]
See also (suggested by CISMeF)
- bellini chiumello rimoldi syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metaphyseal acroscyphodysplasia [ORDO Disease]
- Metaphyseal acroscyphodysplasia [OMIM Phenotype]
- Metaphyseal acroscyphodysplasia [ICD-11 More detail]

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