marfanoid hypermobility syndrome

Preferred Label : marfanoid hypermobility syndrome;

MeSH note : Increased height, long limbs & digits, chest deformity, joint laxity, scoliosis, thoracic lordosis, a highly arched palate with crowding of teeth;

CISMeF synonym : contractural arachnodactyly; marfan syndrome type 1;

Details

Origin ID

C531742;

UMLS CUI

C0268365;

CISMeF manual mappings
- Marfanoid joint hypermobility syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Marfan syndrome type 1 [ICD-11 More detail]
- Marfan syndrome type 1 [ORDO Disease]
- Marfan syndrome type 1 (disorder) [SNOMED CT concept]
- Marfanoid hypermobility syndrome [OMIM Phenotype]
- marfanoid joint hypermobility syndrome [SNOMED Notion]
Has phenotype(s) (HPO)
- Anterior chamber mesodermal anomalies [HPO term]
- High-arched palate [HPO term]
MeSH term(s) associated for indexing
- marfan syndrome [MeSH Descriptor]
Record concept(s)
- Marfanoid hypermobility syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Marfan syndrome type 1 [ORDO Disease]
- Marfan syndrome type 1 [ICD-11 More detail]
- Marfanoid hypermobility syndrome [OMIM Phenotype]
- Marfanoid joint hypermobility syndrome (disorder) [SNOMED CT concept]
- marfanoid joint hypermobility syndrome [SNOMED Notion]

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