Marfanoid habitus with situs inversus

Preferred Label : Marfanoid habitus with situs inversus;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Isolated cases;

Prefixed ID : 609008;

Détails

Origin ID

609008;

UMLS CUI

C1836994;

Currated CISMeF NLP mapping
- marfanoid habitus with situs inversus [MeSH concept]
- marfanoid habitus with situs inversus [MeSH Supplementary Concept]
HPO term(s)
- Aortic regurgitation [HPO term]
- Aortic root aneurysm [HPO term]
- Arachnodactyly [HPO term]
- Disproportionate tall stature [HPO term]
- Genu recurvatum [HPO term]
- Hyperextensibility of the finger joints [HPO term]
- Isolated cases [HPO term]
- Kyphosis [HPO term]
- Lens subluxation [HPO term]
- Long face [HPO term]
- Long, myopathic facies [HPO term]
- Mandibular prognathia [HPO term]
- Mitral valve prolapse [HPO term]
- Myopathic facies [HPO term]
- Myopia [HPO term]
- Obstructive sleep apnea [HPO term]
- Pectus carinatum [HPO term]
- Persistent left superior vena cava [HPO term]
- Pulmonic stenosis [HPO term]
- Reduced upper-lower segment ratio [HPO term]
- Scoliosis [HPO term]
- Situs inversus totalis [HPO term]
- Sporadic [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- marfanoid habitus with situs inversus [MeSH Supplementary Concept]
- marfanoid habitus with situs inversus [MeSH concept]

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