About: Lethal Multiple Pterygium Syndrome     Goto   Sponge   Distinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Lethal Multiple Pterygium Syndrome
rdfs:subClassOf
Semantic_Type
  • Congenital Abnormality
Preferred_Name
  • Lethal Multiple Pterygium Syndrome
UMLS_CUI
  • C1854678
FULL_SYN
  • Lethal Multiple Pterygium SyndromePTNCI
DEFINITION
  • A rare congenital disorder, this is the lethal variant of multiple pterygium syndrome, characterized by severe athrogryposis, pterygium, akinesia and often hydrops fetalis and cystic hygroma. This variant is fatal, usually during the second or third trimester of pregnancy.NCI
code
  • C101038
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