candidiasis familial chronic mucocutaneous, autosomal recessive

Preferred Label : candidiasis familial chronic mucocutaneous, autosomal recessive;

MeSH note : mutation in CLEC7A gene;

CISMeF synonym : candidiasis, familial, type 4;

MeSH synonym : candidiasis, familial, 2; CANDF2; candidiasis, familial chronic mucocutaneous, autosomal recessive; CARD9 immunodeficiency; CARD9 deficiency;

Related MeSH term : Familial chronic mucocutaneous candidiasis; CANDF4; Candidiasis, Familial Chronic Mucocutaneous;

Details

Origin ID

C537979;

UMLS CUI

C1859353;

Currated CISMeF NLP mapping
- CARD9 deficiency [MedDRA Preferred Term]
- Chronic Mucocutaneous Candidiasis [NCIt concept]
- Chronic mucocutaneous candidiasis [HPO term]
- Chronic mucocutaneous candidiasis [MedDRA LLT]
- Chronic mucocutaneous candidiasis (disorder) [SNOMED CT concept]
- Chronic mucocutaneous candidosis [ICD-11 Sub-sub category]
- Immunodeficiency 103, susceptibility to fungal infections [OMIM Phenotype]
- Predisposition to invasive fungal disease due to caspase recruitment domain family member 9 deficiency (disorder) [SNOMED CT concept]
False automatic mappings
- Immunodeficiency 51 [OMIM Phenotype]
MeSH term(s) associated for indexing
- candidiasis, chronic mucocutaneous [MeSH Descriptor]
- candidiasis, chronic mucocutaneous [MeSH Descriptor]
Record concept(s)
- Candidiasis familial chronic mucocutaneous, autosomal recessive [MeSH concept]
- Candidiasis, Familial, Type 4 [MeSH concept]
See also inter- (CISMeF)
- Candidiasis, familial, 8 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CARD9 deficiency [MedDRA Preferred Term]
- Immunodeficiency 103, susceptibility to fungal infections [OMIM Phenotype]
- Predisposition to invasive fungal disease due to caspase recruitment domain family member 9 deficiency (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Chronic mucocutaneous candidiasis [ORDO Disease]
- chronic mucocutaneous candidiasis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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