porphyrias, hepatic

Preferred Label : porphyrias, hepatic;

MeSH definition : A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.;

MeSH synonym : porphyria, hepatic; hepatic porphyrias; hepatic porphyria;

MeSH annotation : do not confuse with PORPHYRIA, ERYTHROHEPATIC;

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

Details

Origin ID

D017094;

UMLS CUI

C0162533;

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)
- acute porphyria [DO Concept]
CISMeF manual mappings
- Liver diseases due to porphyria [ICD-11 Sub-sub category]
Currated CISMeF NLP mapping
- Hepatic porphyria (disorder) [SNOMED CT concept]
- Porphyria hepatic [MedDRA LLT]
- hepatic porphyria, nos [SNOMED Notion]
- hepatic porphyria, nos [TUV Concept]
- hepatic porphyria, nos [TUV Term]
- liver porphyria [Disease (Nov.)]
DO Cross reference
- acute porphyria [DO Concept]
Indexing information
- givosiran [MeSH Supplementary Concept]
Ne pas confondre avec
- protoporphyria, erythropoietic [MeSH Descriptor]
Record concept(s)
- porphyrias, hepatic [MeSH concept]
Related MeSH Supplementary Concept(s)
- porphyria, acute hepatic [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- protoporphyria, erythropoietic [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hepatic porphyria (disorder) [SNOMED CT concept]
- Liver diseases due to porphyria [ICD-11 Sub-sub category]
- Porphyria hepatic [MedDRA LLT]
- acute porphyria [DO Concept]
- hepatic porphyria, nos [TUV Concept]
- hepatic porphyria, nos [TUV Term]
- hepatic porphyria, nos [SNOMED Notion]
- liver porphyria [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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