Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024

Id	http://www.orpha.net/ORDO/Orphanet_90035 http://www.orpha.net/ORDO/Orphanet_90035
Preferred Name	Paroxysmal cold hemoglobinuria
Definitions	Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.
Synonyms	Donath-Landsteiner hemolytic anemia PCH Donath-Landsteiner syndrome
Type	http://www.w3.org/2002/07/owl#Class

definition_citation	Orphanet
definition	Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.
label	Paroxysmal cold hemoglobinuria
prefLabel	Paroxysmal cold hemoglobinuria
hasDbXref	MeSH:C538618 UMLS:C0086774 ICD-10:D59.6 ICD-11:3A20.3
notation	ORPHA:90035
alternative_term	Donath-Landsteiner hemolytic anemia PCH Donath-Landsteiner syndrome
present_in	Europe AND has_point_prevalence_range : 1-9 / 1 000 000
part_of	http://www.orpha.net/ORDO/Orphanet_228312
prefixIRI	ORDO:Orphanet_90035
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90035
subClassOf	http://www.orpha.net/ORDO/Orphanet_377788 http://www.orpha.net/ORDO/Orphanet_557493
type	http://www.w3.org/2002/07/owl#Class
has_inheritance	Multigenic/multifactorial
has_age_of_onset	Childhood
treeView	http://www.orpha.net/ORDO/Orphanet_228312

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