Microspherophakia-metaphyseal dysplasia

Preferred Label : Microspherophakia-metaphyseal dysplasia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 157151;

Details

Origin ID

157151;

UMLS CUI

C1834880;

Currated CISMeF NLP mapping
- Microspherophakia with metaphyseal dysplasia syndrome (disorder) [SNOMED CT concept]
- Microspherophakia-metaphyseal dysplasia syndrome [ORDO Disease]
- Verloes Van Maldergem Marneffe syndrome [MeSH concept]
- verloes van maldergem marneffe syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Flattened moderately deformed vertebrae [HPO term]
- Growth delay [HPO term]
- Irregular epiphyses [HPO term]
- Irregular epiphyses with delayed growth [HPO term]
- Lens coloboma [HPO term]
- Lens subluxation [HPO term]
- Metaphyseal dysplasia [HPO term]
- Microspherophakia [HPO term]
- Myopia [HPO term]
- Retinal detachment [HPO term]
- Short stature [HPO term]
- Skeletal dysplasia [HPO term]
- Spinal stenosis with reduced interpedicular distance [HPO term]
ORDO concept(s)
- Microspherophakia-metaphyseal dysplasia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microspherophakia-metaphyseal dysplasia syndrome [ORDO Disease]
- Verloes Van Maldergem Marneffe syndrome [MeSH concept]
- verloes van maldergem marneffe syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients