OMOP Concept 4100852
Congenital porphyria
StandardConditionSNOMED190913009Disorder
Maps from
4
Descendants
7
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
4 source codes normalize to Congenital porphyria via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | D017092 | Porphyria, Erythropoietic | Non-standard |
| Nebraska Lexicon | 190913009 | Congenital porphyria | Non-standard |
| OXMIS | 2731PC | PORPHYRIA CONGENITAL | Non-standard |
| Read | C371000 | Congenital porphyria | Non-standard |
Synonyms
Alternative names recorded for Congenital porphyria across source vocabularies.
- Congenital porphyria (disorder)
- porfiria congénita
- porfiria congénita (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(11)Roll up to these when you need a wider cohort.
Narrower concepts
(7)Included automatically when you query with descendants.
- 1Congenital erythropoietic porphyria
- 1Erythropoietic protoporphyria
- 1Porphobilinogen synthase deficiency
- 2Erythropoietic protoporphyria due to ferrochelatase deficiency
- 2Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2
- 2Homozygous erythropoietic protoporphyria
- 2X-linked dominant erythropoietic protoporphyria
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