Porphyrias - CISMeF

ICD-11 code : 5C58.1;

Preferred Label : Porphyrias;

ICD-11 definition : Porphyrias constitute a group of diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. All porphyrias are caused by a deficiency in one of the enzymes of the heme biosynthesis pathway resulting in an accumulation of porphyrins and/or their precursors in the liver or bone marrow. Clinical signs of the disease usually appear in adulthood, but some porphyrias affect children. Porphyrias can be classified according to the main location of the metabolic anomaly. Direct or indirect neurotoxicity may cause neurological manifestations. Transmission of hereditary porphyrias is autosomal and either dominant with weak penetrance or recessive with complete penetrance. Diagnosis is mainly based on the measurement of porphyrins and their precursors in biological samples.;

ICD-11 "other" category code : 5C58.1Y;

ICD-11 "unspecified" category code : 5C58.1Z;

Details

Origin ID

98434199;

UMLS CUI

C0032708;

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 [NCIt concept]
- Porphyria (disorder) [SNOMED CT concept]
- Porphyria NOS [MedDRA LLT]
- porphyria [DO Concept]
- porphyria [MedlinePlus Topic]
- porphyria [Disease (Nov.)]
- porphyria, nos [SNOMED Notion]
- porphyrias [MeSH Descriptor]
- porphyrias [MeSH concept]
ICD-10 Mapping
- Disorders of porphyrin and bilirubin metabolism [ICD-10 category]
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 [NCIt concept]
- Porphyria [ORDO Disease]
- Porphyria [PASCAL descriptor]
- Porphyria (disorder) [SNOMED CT concept]
- Porphyria NOS [MedDRA LLT]
- 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 [DO Concept]
- porphyria [MedlinePlus Topic]
- porphyria [Disease (Nov.)]
- porphyria, nos [SNOMED Notion]
- porphyrias [MeSH Descriptor]
- porphyrias [MeSH concept]
Validated automatic mappings to NTBT
- Disorder of porphyrin metabolism (disorder) [SNOMED CT concept]
- Disorders of porphyrin and bilirubin metabolism [ICD-10 category]
- Porphyrin metabolism disorder [MedDRA Preferred Term]
- endocrine/metabolic/nutritional disease other [ICPC-2 Rubric]

Keyword's position in hierarchy(ies) :

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