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Rare disorder without a determined diagnosis after full investigation

Disease definition

A rare disorder for which all reasonable efforts have been done by rare diseases experts to determine a diagnosis according to the state of the art and available diagnostic capabilities, but did not enable to conclude on a clinically known concept. It is recommended to restrict the use of this entity for coding purposes to rare disease experts.

ORPHA:616874

Classification level: Disorder
  • Synonym(s):
    • Fully investigated rare disorder without a determined diagnosis
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: -
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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