specific granule deficiency

Preferred Label : specific granule deficiency;

MeSH synonym : Lactoferrin-Deficient neutrophils; neutrophil lactoferrin deficiency;

Origin ID

C562873;

UMLS CUI

C0398593;

Automatic exact mappings (from CISMeF team)
- Neutrophil lactoferrin deficiency (disorder) [SNOMED CT concept]
- Specific granule deficiency [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Recurrent infection due to specific granule deficiency [ICD-11 More detail]
- Recurrent infection due to specific granule deficiency [ORDO Disease]
- Specific granule deficiency (disorder) [SNOMED CT concept]
- specific granule deficiency [Disease (Nov.)]
MeSH term(s) associated for indexing
- lactoferrin [MeSH Descriptor]
- leukocyte disorders [MeSH Descriptor]
Record concept(s)
- specific granule deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neutrophil lactoferrin deficiency (disorder) [SNOMED CT concept]
- Recurrent infection due to specific granule deficiency [ORDO Disease]
- Specific granule deficiency (disorder) [SNOMED CT concept]
- Specific granule deficiency 1 [OMIM Phenotype]
- specific granule deficiency [Disease (Nov.)]
Validated automatic mappings to BTNT
- Specific granule deficiency 1 [OMIM Phenotype]