Mendelian Susceptibility to Mycobacterial Diseases

Preferred Label : Mendelian Susceptibility to Mycobacterial Diseases;

NCIt synonyms : MSMD;

NCIt definition : A rare inherited disorder typically presenting in childhood characterized by a susceptibly to infection (local and disseminated), particularly from mycobacteria. This disorder has been associated with mutations in several genes including: IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1, IRF8, ISG15, IKBKG, CYBB.;

Details

Origin ID

C176601;

UMLS CUI

C5447326;

Currated CISMeF NLP mapping
- Mendelian susceptibility to mycobacterial disease (disorder) [SNOMED CT concept]
- Mendelian susceptibility to mycobacterial diseases [ICD-11 More detail]
- Mendelian susceptibility to mycobacterial diseases [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mendelian susceptibility to mycobacterial disease (disorder) [SNOMED CT concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- CYBB Gene [NCIt concept]
- IFNGR1 Gene [NCIt concept]
- IFNGR2 Gene [NCIt concept]
- IKBKG Gene [NCIt concept]
- IL12B Gene [NCIt concept]
- IL12RB1 Gene [NCIt concept]
- IRF8 Gene [NCIt concept]
- ISG15 Gene [NCIt concept]
- STAT1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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