Porphyria - CISMeF

Preferred Label : Porphyria;

NCIt definition : A group of genetic or acquired metabolic disorders characterized by defects in the enzymes that are involved in the heme synthesis.;

Details

Origin ID

C97096;

UMLS CUI

C5848305;

Automatic exact mappings (from CISMeF team)
- endocrine/metabolic/nutritional disease other [ICPC-2 Rubric]
Currated CISMeF NLP mapping
- Disorders of porphyrin metabolism [ICD-9 code]
- PORPHYRIA [WHO-ART Preferred Term]
- Porphyria [MedDRA Preferred Term]
- Porphyria [ORDO Disease]
- Porphyria [PASCAL descriptor]
- Porphyria (disorder) [SNOMED CT concept]
- Porphyria NOS [MedDRA LLT]
- Porphyrias [ICD-11 Subcategory]
- Porphyrin metabolism disorder [MedDRA Preferred Term]
- porphyria [MedlinePlus Topic]
- porphyria [Disease (Nov.)]
- porphyria [DO Concept]
- porphyria, nos [SNOMED Notion]
- porphyrias [MeSH concept]
- porphyrias [MeSH Descriptor]
DO Cross reference
- porphyria [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disorder of porphyrin and heme metabolism [ORDO Disease]
- Disorder of porphyrin metabolism (disorder) [SNOMED CT concept]
- Disorders of porphyrin metabolism [ICD-9 code]
- PORPHYRIA [WHO-ART Preferred Term]
- Porphyria [MedDRA Preferred Term]
- Porphyria [ORDO Disease]
- Porphyria [PASCAL descriptor]
- Porphyria (disorder) [SNOMED CT concept]
- Porphyria NOS [MedDRA LLT]
- Porphyrias [ICD-11 Subcategory]
- Porphyrin metabolism disorder [MedDRA Preferred Term]
- Porphyrin metabolism disorder NOS [MedDRA LLT]
- Porphyrinopathy (disorder) [SNOMED CT concept]
- disorder of porphyrin metabolism [Radlex concept]
- disorder of porphyrin metabolism, nos [SNOMED Notion]
- disorders of porphyrin and heme metabolism [Disease (Nov.)]
- porphyria [MedlinePlus Topic]
- porphyria [DO Concept]
- porphyria [Disease (Nov.)]
- porphyria, nos [SNOMED Notion]
- porphyrias [MeSH concept]
- porphyrias [MeSH Descriptor]
Validated automatic mappings to NTBT
- disorder of porphyrin metabolism [Radlex concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients