Preferred Name

Neutrophil immunodeficiency syndrome

ID

http://www.orpha.net/ORDO/Orphanet_183707

definition

Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183707

has_age_of_onset

Neonatal

Infancy

has_inheritance

Unknown

hasDbXref

ICD-11:4A00.00

UMLS:C1842398

OMIM:608203

OMIM:618987

ICD-10:D71

label

Neutrophil immunodeficiency syndrome

notation

ORPHA:183707

part_of

http://www.orpha.net/ORDO/Orphanet_183681

prefixIRI

ORDO:Orphanet_183707

prefLabel

Neutrophil immunodeficiency syndrome

present_in

Worldwide AND has_cases/families_value : 2.0 (Case)

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

treeView

http://www.orpha.net/ORDO/Orphanet_183681

subClassOf

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

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

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_183707 Experimental Factor Ontology / 实验性因素本体 SAME_URI
http://purl.bmicc.cn/ontology/ICD11CN/4A00.00 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
http://purl.obolibrary.org/obo/MONDO_0011988 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0011988 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/C564275 Medical Subject Headings / 医学主题词表 LOOM