Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Dyschromatosis universalis hereditaria
Synonyms
Definitions

A rare, genetic, pigmentation anomaly of the skin characterized by generalized, irregularly shaped, asymptomatic, hyper- and hypopigmented macules distributed in a reticular pattern involving the trunk, limbs, and sometimes the face. The palms, soles and mucosa are usually not affected. Systemic abnormalities have been rarely reported.

ID

http://www.orpha.net/ORDO/Orphanet_241

definition

A rare, genetic, pigmentation anomaly of the skin characterized by generalized, irregularly shaped, asymptomatic, hyper- and hypopigmented macules distributed in a reticular pattern involving the trunk, limbs, and sometimes the face. The palms, soles and mucosa are usually not affected. Systemic abnormalities have been rarely reported.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=241

hasDbXref

MeSH:C535730

ICD-11:EC23.Y

OMIM:127500

ICD-10:L81.8

OMIM:615402

UMLS:C2930995

OMIM:612715

label

Dyschromatosis universalis hereditaria

notation

ORPHA:241

part_of

http://www.orpha.net/ORDO/Orphanet_79375

http://www.orpha.net/ORDO/Orphanet_183466

prefixIRI

ORDO:Orphanet_241

prefLabel

Dyschromatosis universalis hereditaria

treeView

http://www.orpha.net/ORDO/Orphanet_79375

http://www.orpha.net/ORDO/Orphanet_183466

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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