About: Goldenhar Syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Goldenhar Syndrome
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Goldenhar Syndrome
UMLS_CUI
  • C0265240
Contributing_Source
  • NICHD
FULL_SYN
  • Goldenhar SyndromePTNCI
  • Goldenhar SyndromePTNICHD
DEFINITION
  • A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate.NCI
code
  • C84740
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