peroxisomal disorders

Preferred Label : peroxisomal disorders;

MeSH definition : A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.;

MeSH synonym : peroxisomal disorder;

MeSH hyponym : adrenoleukodystrophy, neonatal; peroxisomal dysfunction, multiple; peroxisomal dysfunction, general; peroxisomal dysfunction, single; hyperpipecolic acidemia; Acidemia, Hyperpipecolic; Acidemias, Hyperpipecolic; Hyperpipecolic Acidemias; Hyperpipecolatemia; Dysfunction, Multiple Peroxisomal; Dysfunctions, Multiple Peroxisomal; Multiple Peroxisomal Dysfunction; Multiple Peroxisomal Dysfunctions; Peroxisomal Dysfunctions, Multiple; Dysfunction, Single Peroxisomal; Dysfunctions, Single Peroxisomal; Peroxisomal Dysfunctions, Single; Single Peroxisomal Dysfunction; Single Peroxisomal Dysfunctions; Adrenoleukodystrophies, Neonatal; Neonatal Adrenoleukodystrophies; Adrenoleukodystrophy, Autosomal, Neonatal Form; Neonatal Adrenoleukodystrophy; Adrenoleukodystrophy, Autosomal Neonatal Form; Dysfunction, General Peroxisomal; Dysfunctions, General Peroxisomal; General Peroxisomal Dysfunction; General Peroxisomal Dysfunctions; Peroxisomal Dysfunctions, General;

MeSH annotation : general or unspecified; prefer specifics; do not confuse entry term ADRENOLEUKODYSTROPHY, NEONATAL with ADRENOLEUKODYSTROPHY;

Wikipedia link : https://en.wikipedia.org/wiki/Peroxisomal disorders;

Details

Origin ID

D018901;

UMLS CUI

C0282528;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [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)
- Disorders of fatty-acid metabolism [ICD-10 Sub-category (who)]
- Disorders of peroxisome biogenesis [ICD-11 Subcategory]
- Hyperpipecolic acidaemia [MedDRA Preferred Term]
- Hyperpipecolic acidemia [MedDRA LLT]
- Neonatal adrenoleukodystrophy [ORDO Disease]
- Neonatal adrenoleukodystrophy (disorder) [SNOMED CT concept]
- Peroxisomal disorders [PASCAL descriptor]
- Peroxisomal disorders [ICD-9 code]
- Pipecolic acidaemia [ICD-11 More detail]
- Pipecolic acidemia [ORDO Disease]
- Pipecolic acidemia (disorder) [SNOMED CT concept]
- Zellweger syndrome (disorder) [SNOMED CT concept]
- pipecolic acidemia [SNOMED Notion]
CISMeF manual mappings
- Disorder of peroxisomal function (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Peroxisomal Disorder [NCIt concept]
- Peroxisomal disease [ORDO Disease]
- Peroxisomal diseases [ICD-11 Category]
- disorders of peroxisomal function [Disease (Nov.)]
- peroxisomal disease [DO Concept]
DO Cross reference
- peroxisomal disease [DO Concept]
Manual NTBT mappings (CISMeF)
- Congenital bile acid synthesis defect type 4 [ORDO Disease]
- Genetic chronic primary adrenal insufficiency [ORDO Disease]
- Metabolic disease with pigmentary retinitis [ORDO Disease]
- Metabolic diseases with epilepsy [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Peroxisomal acyl-CoA oxidase deficiency [ORDO Disease]
- Peroxisomal beta-oxidation disorder [ORDO Disease]
- Peroxisome biogenesis disorder [ORDO Disease]
ORDO relation(s)
- Neonatal adrenoleukodystrophy [ORDO Disease]
- Peroxisomal disease [ORDO Disease]
- Pipecolic acidemia [ORDO Disease]
Record concept(s)
- adrenoleukodystrophy, neonatal [MeSH concept]
- hyperpipecolic acidemia [MeSH concept]
- peroxisomal disorders [MeSH concept]
- peroxisomal dysfunction, general [MeSH concept]
- peroxisomal dysfunction, multiple [MeSH concept]
- peroxisomal dysfunction, single [MeSH concept]
Related MeSH Supplementary Concept(s)
- bile acid synthesis defect, congenital, 4 [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group 1 [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group 11 [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group 12 [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group 13 [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group 14 [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group 3 [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group 4 [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group 7 [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group 9 [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group D [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group E [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group G [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group H [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group J [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group K [MeSH Supplementary Concept]
- peroxisome biogenesis disorder, complementation group R [MeSH Supplementary Concept]
- peroxisome biogenesis disorders [MeSH Supplementary Concept]
See also
- peroxisomes [MeSH Descriptor]
See also (suggested by CISMeF)
- adrenoleukodystrophy [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disorder of peroxisomal function (disorder) [SNOMED CT concept]
- Peroxisomal Disorder [NCIt concept]
- Peroxisomal disease [ORDO Disease]
- Peroxisomal diseases [ICD-11 Category]
- Peroxisomal disorders [ICD-9 code]
- disorders of peroxisomal function [Disease (Nov.)]
- peroxisomal disease [DO Concept]
Validated automatic mappings to BTNT
- Hyperpipecolatemia [NCIt concept]
- Neonatal Adrenoleukodystrophy [NCIt concept]
- Neonatal adrenoleukodystrophy [ICD-11 More detail]

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