Chronic granulomatous disease

Preferred Label : Chronic granulomatous disease;

ICD-11 definition : Chronic granulomatous disease is a primary immune deficiency marked by failure to destroy bacteria and fungi phagocytosed by neutrophils and macrophages. Four different genetic types have been identified, among which deficiency of the heavy chain in the cytochrome (X-linked) is the most frequent.;

ICD-11 synonym : chronic granulomatous disorder; CGD - [chronic granulomatous disease]; Chronic septic granulomatosis;

ICD-11 acronym : CGD;

Details

Origin ID

1329764681;

UMLS CUI

C0018203;

Automatic exact mappings (from CISMeF team)
- CYBB wt Allele [NCIt concept]
- Granulomatous disease, chronic [OMIM phenotypic series]
- Peroxisome biogenesis disorder 8a (zellweger) [OMIM Phenotype]
- cat-scratch disease [MeSH Descriptor]
- neutrophil cytosolic factor 1 [HGNC gene]
- neutrophil cytosolic factor 2 [HGNC gene]
Currated CISMeF NLP mapping
- Chronic Granulomatous Disease [NCIt concept]
- Chronic granulomatous disease [ORDO Disease]
- Chronic granulomatous disease [MedDRA Preferred Term]
- Chronic granulomatous disease [PASCAL descriptor]
- 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 concept]
- granulomatous disease, chronic [MeSH Descriptor]
False automatic mappings
- cromolyn sodium [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chronic Granulomatous Disease [NCIt concept]
- Chronic granulomatous disease [MedDRA Preferred Term]
- Chronic granulomatous disease [ORDO Disease]
- Chronic granulomatous disease [PASCAL descriptor]
- 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 Descriptor]
- granulomatous disease, chronic [MeSH concept]
Validated automatic mappings to BTNT
- Granulomatous disease, chronic, X-linked [OMIM Phenotype]
Validated automatic mappings to NTBT
- immune system and disorders [MedlinePlus Topic]

Keyword's position in hierarchy(ies) :

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