X-Linked Lymphoproliferative Syndrome

Preferred Label : X-Linked Lymphoproliferative Syndrome;

NCIt synonyms : Duncan Disease;

NCIt definition : An X-linked immunodeficiency syndrome that exclusively affects males, although females can be carriers. It is caused by mutation(s) in SH2D1A and/or XIAP genes and is characterized by life-threatening episodes of infectious mononucleosis, hypogammaglobulinemia, and subsequent development of lymphomas (usually B-cell lymphomas) and other lymphoproliferative disorders.;

Détails

Origin ID

C61246;

UMLS CUI

C0549463;

Automatic exact mappings (from CISMeF team)
- lymphoproliferative disorders [MeSH Descriptor]
Currated CISMeF NLP mapping
- Duncan disease [PASCAL descriptor]
- Duncan syndrome [MedDRA LLT]
- X-Linked lymphoproliferative disorder [MeSH concept]
- X-linked lymphoproliferative disease [ORDO Disease]
- X-linked lymphoproliferative disease [ICD-11 More detail]
- X-linked lymphoproliferative disorder [Disease (Nov.)]
- X-linked lymphoproliferative syndrome [MedDRA Preferred Term]
- X-linked lymphoproliferative syndrome (disorder) [SNOMED CT concept]
- x-linked lymphoproliferative syndrome [SNOMED Notion]
See also inter- (CISMeF)
- SH2 domain containing 1A [HGNC gene]
- SH2 domain containing 1A [ORDO Gene]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Duncan syndrome [MedDRA LLT]
- Lymphoproliferative syndrome, X-linked, 1 [OMIM Phenotype]
- X-Linked lymphoproliferative disorder [MeSH concept]
- X-linked lymphoproliferative disease [ORDO Disease]
- X-linked lymphoproliferative disorder [Disease (Nov.)]
- X-linked lymphoproliferative syndrome [MedDRA Preferred Term]
- X-linked lymphoproliferative syndrome (disorder) [SNOMED CT concept]
- X-linked lymphoproliferative syndrome 1 [DO Concept]
- x-linked lymphoproliferative syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Lymphoproliferative syndrome, X-linked, 1 [OMIM Phenotype]
- X-linked lymphoproliferative syndrome 1 [DO Concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Immune System [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]
related_to_genetic_biomarker
- SH2D1A Gene [NCIt concept]
- XIAP Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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