OMOP Concept 4078441

Porphobilinogen deaminase deficiency

StandardConditionSNOMED276263005Disorder
Maps from
2
Descendants
2
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept

2 source codes normalize to Porphobilinogen deaminase deficiency via the OMOP "Maps to" relationship.

VocabularyCodeNameType
CIEL129492Porphobilinogen deaminase deficiencyNon-standard
Nebraska Lexicon276263005Uroporphyrinogen 1 synthase deficiencyNon-standard

Synonyms

Alternative names recorded for Porphobilinogen deaminase deficiency across source vocabularies.

  • deficiencia de porfobilinógeno desaminasa
  • deficiencia de porfobilinógeno desaminasa (trastorno)
  • deficiencia de uroporfirinógeno 1 sintetasa
  • PBGD deficiency
  • PBGD - Porphobilinogen deaminase deficiency
  • Porphobilinogen deaminase deficiency (disorder)
  • Uroporphyrinogen 1 synthase deficiency

Where it sits in the hierarchy

Ordered by distance - 1 is a direct parent or child.

Broader concepts

(4)

Roll up to these when you need a wider cohort.

Narrower concepts

(2)

Included automatically when you query with descendants.

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