National Drug File - Reference Terminology - Peroxisomal Disorders [Disease/Finding] - Classes

Last uploaded: July 6, 2018

Preferred Name	Peroxisomal Disorders [Disease/Finding]
Synonyms	Peroxisomal Disorders
ID	http://purl.bioontology.org/ontology/NDFRT/N0000003876
altLabel	Peroxisomal Disorders
cui	C0282528
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 DUI	D018901
MeSH name	Peroxisomal Disorders
MESH UI	M0028264
NDFRT kind	DISEASE_KIND
notation	N0000003876
NUI	N0000003876
prefLabel	Peroxisomal Disorders [Disease/Finding]
tui	T047
subClassOf	http://purl.bioontology.org/ontology/NDFRT/N0000002005

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D018901	MSHFRE	CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.5	ICD10CM	CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.50	ICD10CM	CUI
http://purl.bioontology.org/ontology/MESH/D018901	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/238059005	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238059005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X40We	RCD	CUI
http://purl.bioontology.org/ontology/ICD9CM/277.86	ICD9CM	CUI