Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Cutaneous mastocytosis

Synonyms
Definitions

A rare group of mastocytosis diseases characterized by abnormal accumulation and proliferation of mast cells in the skin and including the three recognised forms: diffuse cutaneous mastocytosis, cutaneous mastocytoma and, the most common form, maculopapular cutaneous mastocytosis. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.

ID

http://www.orpha.net/ORDO/Orphanet_66646

definition

A rare group of mastocytosis diseases characterized by abnormal accumulation and proliferation of mast cells in the skin and including the three recognised forms: diffuse cutaneous mastocytosis, cutaneous mastocytoma and, the most common form, maculopapular cutaneous mastocytosis. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66646

has_age_of_onset

Childhood

has_inheritance

Not applicable

hasDbXref

MeSH:D034701

ICD-11:2A21.1

UMLS:C1136033

label

Cutaneous mastocytosis

notation

ORPHA:66646

Clinical group

prefixIRI

ORDO:Orphanet_66646

prefLabel

Cutaneous mastocytosis

present_in

Worldwide AND has_point_prevalence_range : Unknown

subClassOf

http://www.orpha.net/ORDO/Orphanet_90077

http://www.orpha.net/ORDO/Orphanet_98292

http://www.orpha.net/ORDO/Orphanet_557492

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Delete Mapping To Ontology Source
http://www.ebi.ac.uk/efo/EFO_1000886 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019023 MONDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Cutaneous_Mastocytosis CSEO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_10894 HRDO LOOM
http://purl.obolibrary.org/obo/DERMO_0001198 DERMO LOOM
http://purl.obolibrary.org/obo/DOID_3663 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3663 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3663 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3663 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_3663 FNS-H LOOM
http://localhost/plosthes.2017-1#597 PLOSTHES LOOM
http://www.phoc.org.cn/pmo/class/PMO_00009426 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/397012002 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/HP_0200151 HP LOOM
http://purl.obolibrary.org/obo/HP_0200151 UPHENO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/703827008 SNOMEDCT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3663 NATPRO LOOM
http://purl.bioontology.org/ontology/ICD10CM/D47.01 ICD10CM LOOM
http://purl.obolibrary.org/obo/NCIT_C7137 BERO LOOM
http://purl.obolibrary.org/obo/MP_0031395 MP LOOM
http://purl.obolibrary.org/obo/MP_0031395 UPHENO LOOM
http://www.ebi.ac.uk/efo/EFO_1000886 EFO LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000553272 PDQ LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU032230 OMIM LOOM
http://purl.obolibrary.org/obo/MONDO_0019023 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7137 NCIT LOOM