Porphobilinogen deaminase

Preferred Label : Porphobilinogen deaminase;

LOINC status : ACTIVE;

Synonyme UMLS : Uroporphyrinogen synthase; Uroporphyrinogen-1 synthase; Uroporphyrinogen I synthase; Hydroxymethylbilane synthase; Pre-uroporphyrinogen synthase;

UMLS MTHU# : MTHU003560;

Détails

Origin ID

LP15810-2;

UMLS CUI

C0032706;

Automatic exact mappings (from CISMeF team)
- Acute intermittent porphyria [ICD-11 More detail]
- Hydroxymethylbilane synthase [OMIM gene]
- hydroxymethylbilane synthase [HGNC gene]
- hydroxymethylbilane synthase [ORDO Gene]
- uroporphyrinogen iii synthetase [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hydroxymethylbilane synthase (substance) [SNOMED CT concept]
- Uroporphyrinogen synthase (substance) [SNOMED CT concept]
- hydroxymethylbilane synthase [MeSH concept]
- hydroxymethylbilane synthase [MeSH Descriptor]
- porphobilinogen deaminase [SNOMED Notion]
LOINC code(s)
- Porphobilinogen deaminase:CCnc:Pt:Bld:Qn: [LOINC code]
- Porphobilinogen deaminase:CCnc:Pt:RBC:Qn: [LOINC code]
- Porphobilinogen deaminase:CCnt:Pt:RBC:Qn: [LOINC code]
LOINC exact mappings
- Hydroxymethylbilane synthase (substance) [SNOMED CT concept]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- Hydroxymethylbilane synthase (substance) [SNOMED CT concept]
- Uroporphyrinogen synthase (substance) [SNOMED CT concept]
- hydroxymethylbilane synthase [MeSH concept]
- hydroxymethylbilane synthase [MeSH Descriptor]
- porphobilinogen deaminase [SNOMED Notion]

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