Autoimmune lymphoproliferative syndrome

Preferred Label : Autoimmune lymphoproliferative syndrome;

ICD-11 definition : Autoimmune lymphoproliferative syndrome (ALPS) is a genetic disorder associated with abnormal lymphocyte apoptosis, lymphoproliferation, and autoimmunity. Common features are severe lymphadenopathy and splenomegaly, hemolytic anemia, autoimmune neutropenia, and immune thrombocytopenia purpura.;

ICD-11 synonym : autoimmune lymphoproliferative syndrome with recurrent infections;

ICD-11 inclusion : ALPS-KRAS; FAS deficiency; Canale-Smith syndrome; FAS deficiency (ALPS-FAS)(ALPS1a); ALPS-FASLG (ALPS1b); ALPS-NRAS; ALPS-CASP10 (ALPS2a); Caspase 8 defect (ALPS2b);

Details

Origin ID

1072688797;

UMLS CUI

C1328840;

Currated CISMeF NLP mapping
- Autoimmune Lymphoproliferative Syndrome [NCIt concept]
- Autoimmune lymphoproliferative syndrome [PASCAL descriptor]
- Autoimmune lymphoproliferative syndrome [MedDRA Preferred Term]
- Autoimmune lymphoproliferative syndrome [ORDO Disease]
- Autoimmune lymphoproliferative syndrome [ICD-9 code]
- Autoimmune lymphoproliferative syndrome [OMIM Phenotype]
- Autoimmune lymphoproliferative syndrome (disorder) [SNOMED CT concept]
- autoimmune lymphoproliferative syndrome [MeSH concept]
- autoimmune lymphoproliferative syndrome [DO Concept]
- autoimmune lymphoproliferative syndrome [MeSH Descriptor]
- autoimmune lymphoproliferative syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autoimmune Lymphoproliferative Syndrome [NCIt concept]
- Autoimmune lymphoproliferative syndrome [ICD-9 code]
- Autoimmune lymphoproliferative syndrome [MedDRA Preferred Term]
- Autoimmune lymphoproliferative syndrome [OMIM Phenotype]
- Autoimmune lymphoproliferative syndrome [ORDO Disease]
- Autoimmune lymphoproliferative syndrome [PASCAL descriptor]
- Autoimmune lymphoproliferative syndrome (disorder) [SNOMED CT concept]
- autoimmune lymphoproliferative syndrome [DO Concept]
- autoimmune lymphoproliferative syndrome [MeSH Descriptor]
- autoimmune lymphoproliferative syndrome [MeSH concept]
- autoimmune lymphoproliferative syndrome [Disease (Nov.)]
Validated automatic mappings to BTNT
- Autoimmune lymphoproliferative syndrome with recurrent viral infections [ORDO Disease]

Keyword's position in hierarchy(ies) :

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