porphyrias - CISMeF

Preferred Label : porphyrias;

MeSH definition : A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.;

MeSH synonym : porphyria; porphyrin disorder; disorder, porphyrin; disorders, porphyrin; porphyrin disorders;

MeSH annotation : general or unspecified: prefer specifics;

Wikipedia link : https://en.wikipedia.org/wiki/Porphyria;

Details

Origin ID

D011164;

UMLS CUI

C5848306;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Other porphyria [ICD-10 Sub-category (who)]
- Pseudoporphyria [MedDRA Preferred Term]
- Pseudoporphyria (disorder) [SNOMED CT concept]
- endocrine/metabolic/nutritional disease other [ICPC-2 Rubric]
- pseudoporphyria [SNOMED Notion]
Currated CISMeF NLP mapping
- Disorders of porphyrin metabolism [ICD-9 code]
- PORPHYRIA [WHO-ART Preferred Term]
- Porphyria [NCIt concept]
- Porphyria [PASCAL descriptor]
- Porphyria [MedDRA Preferred Term]
- Porphyria [ORDO Disease]
- Porphyria (disorder) [SNOMED CT concept]
- Porphyria NOS [MedDRA LLT]
- Porphyrias [ICD-11 Subcategory]
- Porphyrin metabolism disorder [MedDRA Preferred Term]
- porphyria [Disease (Nov.)]
- porphyria [DO Concept]
- porphyria [MedlinePlus Topic]
- porphyria, nos [SNOMED Notion]
DO Cross reference
- porphyria [DO Concept]
Indexing information
- heme arginate [MeSH Supplementary Concept]
- phyriaviolin [MeSH Supplementary Concept]
- phyriazulin [MeSH Supplementary Concept]
Manual BTNT mappings - CISMeF
- Acute hepatic porphyria [ORDO Disease]
- Chronic hepatic porphyria [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Constitutional anemia due to iron metabolism disorder [ORDO Disease]
- Disorder of amino acid and other organic acid metabolism [ORDO Disease]
- Genetic photodermatosis [ORDO Disease]
- Metabolic disease with skin involvement [ORDO Disease]
- Nephropathy secondary to a storage or other metabolic disease [ORDO Disease]
- Rare genetic hematologic disease [ORDO Disease]
- Rare hematologic disease [ORDO Disease]
- Rare photodermatosis [ORDO Disease]
MedlinePlus topic(s)
- porphyria [MedlinePlus Topic]
ORDO relation(s)
- Porphyria [ORDO Disease]
Record concept(s)
- porphyrias [MeSH concept]
Related MeSH Supplementary Concept(s)
- porphyria, chester type [MeSH Supplementary Concept]
- yusho disease [MeSH Supplementary Concept]
See also
- hydroxymethylbilane synthase [MeSH Descriptor]
- porphobilinogen synthase [MeSH Descriptor]
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 [NCIt concept]
- 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 [DO Concept]
- porphyria [Disease (Nov.)]
- porphyria [MedlinePlus Topic]
- porphyria, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- disorder of porphyrin metabolism [Radlex concept]

Keyword's position in hierarchy(ies) :

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