Chronic Granulomatous Disease

Preferred Label : Chronic Granulomatous Disease;

NCIt synonyms : CGD;

NCIt definition : A rare genetic disorder with a predominantly X-linked recessive pattern of inheritance resulting in impaired phagocytic clearance of bacteria and fungi. It is caused by a defect in the phagocytic NADPH oxidase (phox) complex. The phagocytes can engulf pathogens but are unable to produce the microbicidal precursors needed to destroy them. Clinical signs of severe disease present in childhood with milder forms later in life. They include recurrent infection especially pneumonia, cervical lymphadenopathy and hepatosplenomegaly. The clinical course includes the appearance of granulomata in the skin and gastrointestinal or genitourinary tracts. The clinical prognosis is dependent on effectively treating and preventing infection.;

Details

Origin ID

C26788;

UMLS CUI

C0018203;

Automatic exact mappings (from CISMeF team)
- Gene ID (CGD) [EDAM data]
- Granulomatous disease, chronic [OMIM phenotypic series]
- Granulomatous disease, chronic, X-linked [OMIM Phenotype]
- Peroxisome biogenesis disorder 8a (zellweger) [OMIM Phenotype]
- cytochrome b-245 beta chain [ORDO Gene]
- immune system and disorders [MedlinePlus Topic]
- 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 [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.)]
- granulomatous disease, chronic [MeSH Descriptor]
- granulomatous disease, chronic [MeSH concept]
DO Cross reference
- chronic granulomatous disease [DO Concept]
False automatic mappings
- Chronic granulomatous disease (disorder) [SNOMED CT concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chronic granulomatous disease [ORDO Disease]
- Chronic granulomatous disease [PASCAL descriptor]
- Chronic granulomatous disease [ICD-11 More detail]
- Chronic granulomatous disease [MedDRA Preferred Term]
- 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.)]
- granulomatous disease, chronic [MeSH concept]
- granulomatous disease, chronic [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]

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