granulomatous disease, chronic

Preferred Label : granulomatous disease, chronic;

MeSH definition : A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern.;

MeSH synonym : chronic granulomatous disease; chronic granulomatous diseases; granulomatous diseases, chronic;

CISMeF synonym : disease, chronic granulomatous; diseases, chronic granulomatous;

CISMeF acronym : CGD;

MeSH Hyperonym : Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked; X-Linked Chronic Granulomatous Disease; X Linked Chronic Granulomatous Disease; Granulomatous Disease, Chronic, X-Linked, Variant; Chronic Granulomatous Disease, Atypical; Chronic Granulomatous Disease, X-Linked; Chronic Granulomatous Disease, X Linked; Cytochrome B-Positive Granulomatous Disease, Chronic, X-Linked;

MeSH hyponym : X-Linked chronic granulomatous disease; autosomal recessive chronic granulomatous disease;

MeSH annotation : also called granulomatous disease of childhood;

Wikipedia link : https://en.wikipedia.org/wiki/Chronic granulomatous disease;

Details

Origin ID

D006105;

UMLS CUI

C0018203;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- CYBB wt Allele [NCIt concept]
- Cromoglicate sodium (substance) [SNOMED CT concept]
- GSC Gene [NCIt concept]
- GSC wt Allele [NCIt concept]
- Gene ID (CGD) [EDAM data]
- Goosecoid homeobox [OMIM gene]
- Granulomatous disease, chronic [OMIM phenotypic series]
- Granulomatous disease, chronic, X-linked [OMIM Phenotype]
- Peroxisome biogenesis disorder 8a (zellweger) [OMIM Phenotype]
- X-linked chronic granulomatous disease [DO Concept]
- gastroscopy [CISMeF resources Type]
- neutrophil cytosolic factor 1 [HGNC gene]
- neutrophil cytosolic factor 2 [HGNC gene]
CISMeF manual mappings
- Congenital dysphagocytosis (disorder) [Inactive SNOMED CT concept]
Currated CISMeF NLP mapping
- Chronic Granulomatous Disease [NCIt concept]
- Chronic granulomatous disease [PASCAL descriptor]
- Chronic granulomatous disease [ICD-11 More detail]
- Chronic granulomatous disease [MedDRA Preferred Term]
- Chronic granulomatous disease [ORDO Disease]
- Chronic granulomatous disease (disorder) [SNOMED CT concept]
- Granulomatous disease, chronic [TUV Concept]
- chronic granulomatous disease [DO Concept]
- chronic granulomatous disease, nos [SNOMED Notion]
- chronic granulomatous disorder [Disease (Nov.)]
DO Cross reference
- chronic granulomatous disease [DO Concept]
Indexing information
- cytochrome b245 [MeSH Supplementary Concept]
- neutrophil cytosolic factor 1 [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Functional neutrophil defect [ORDO Disease]
- Genetic immune deficiency with skin involvement [ORDO Disease]
- Immune deficiency with skin involvement [ORDO Disease]
MedlinePlus topic(s)
- immune system and disorders [MedlinePlus Topic]
ORDO relation(s)
- Chronic granulomatous disease [ORDO Disease]
Record concept(s)
- autosomal recessive chronic granulomatous disease [MeSH concept]
- granulomatous disease, chronic [MeSH concept]
- granulomatous disease, chronic, X-Linked [MeSH concept]
Related MeSH Supplementary Concept(s)
- combined cellular and humoral immune defects with granulomas [MeSH Supplementary Concept]
- granulomatous disease with defect in neutrophil chemotaxis [MeSH Supplementary Concept]
- granulomatous disease, chronic, autosomal dominant type [MeSH Supplementary Concept]
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Negative [MeSH Supplementary Concept]
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Positive, type I [MeSH Supplementary Concept]
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Positive, type II [MeSH Supplementary Concept]
See also
- NADPH Oxidases [MeSH Descriptor]
- respiratory burst [MeSH Descriptor]
See also (suggested by CISMeF)
- granuloma [MeSH Descriptor]
See also inter- (CISMeF)
- cytochrome b-245 beta chain [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chronic Granulomatous Disease [NCIt concept]
- Chronic granulomatous disease [ORDO Disease]
- Chronic granulomatous disease [MedDRA Preferred Term]
- Chronic granulomatous disease [PASCAL descriptor]
- Chronic granulomatous disease [ICD-11 More detail]
- Chronic granulomatous disease (disorder) [SNOMED CT concept]
- Congenital dysphagocytosis (disorder) [Inactive SNOMED CT concept]
- Granulomatous disease, chronic [TUV Concept]
- chronic granulomatous disease [DO Concept]
- chronic granulomatous disease, nos [SNOMED Notion]
- chronic granulomatous disorder [Disease (Nov.)]
Validated automatic mappings to BTNT
- Functional disorders of polymorphonuclear neutrophils [ICD-10 category]
- X-linked Chronic Granulomatous Disease [NCIt concept]
- autosomal recessive chronic granulomatous disease [Disease (Nov.)]
- x linked chronic granulomatous disease [Disease (Nov.)]
Validated automatic mappings to NTBT
- Functional disorders of polymorphonuclear neutrophils [ICD-10 category (who)]
- immune system and disorders [MedlinePlus Topic]

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