Marden-Walker syndrome

Preferred Label : Marden-Walker syndrome;

MeSH synonym : connective tissue disorder, Marden-Walker type; generalized connective tissue syndrome; blepharophimosis, micrognathia, immobile facies, kyphoscoliosis, limb contractures, pigeon breast, and arachnodactyly;

Détails

Origin ID

C535910;

UMLS CUI

C0796033;

CISMeF manual mappings
- Marden Walker syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Marden-Walker syndrome [ICD-11 More detail]
- Marden-Walker syndrome [ORDO Disease]
- Marden-walker syndrome [OMIM Phenotype]
- Van den Ende-Gupta syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- High-arched palate [HPO term]
- Prenatal growth deficiency [HPO term]
- Upturned nose [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- arachnodactyly [MeSH Descriptor]
- blepharophimosis [MeSH Descriptor]
- connective tissue diseases [MeSH Descriptor]
- contracture [MeSH Descriptor]
ORDO relation(s)
- Marden-Walker syndrome [ORDO Disease]
Record concept(s)
- Marden-Walker syndrome [MeSH concept]
See also inter- (CISMeF)
- Van den ende-gupta syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Marden Walker syndrome (disorder) [SNOMED CT concept]
- Marden-Walker syndrome [ORDO Disease]
- Marden-walker syndrome [OMIM Phenotype]

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