autoimmune lymphoproliferative syndrome

Preferred Label : autoimmune lymphoproliferative syndrome;

MeSH definition : Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY.;

MeSH synonym : Autoimmune Lymphoproliferative Syndromes; Lymphoproliferative Syndrome, Autoimmune; Lymphoproliferative Syndromes, Autoimmune; Syndrome, Autoimmune Lymphoproliferative; Syndromes, Autoimmune Lymphoproliferative; Canale Smith Syndrome; Syndrome, Canale Smith; Canale-Smith syndrome; Canale-Smith syndromes; syndrome, Canale-Smith; syndromes, Canale-Smith; autoimmune lymphoproliferative syndrome, type I, autosomal dominant;

MeSH hyponym : autoimmune lymphoproliferative syndrome type 2B; autoimmune lymphoproliferative syndrome type 1, autosomal dominant; Caspase-8 Deficiency; Caspase-8 Deficiencies; Deficiencies, Caspase-8; Deficiency, Caspase-8; Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS2B); Autoimmune Lymphoproliferative Syndrome, Type IIb; Caspase 8 Deficiency; Caspase 8 Deficiencies; Deficiencies, Caspase 8; Deficiency, Caspase 8;

Wikipedia link : https://en.wikipedia.org/wiki/Autoimmune lymphoproliferative syndrome;

Details

Origin ID

D056735;

UMLS CUI

C1328840;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Caspase 8 deficiency [OMIM Phenotype]
Currated CISMeF NLP mapping
- Autoimmune Lymphoproliferative Syndrome [NCIt concept]
- Autoimmune lymphoproliferative syndrome [PASCAL descriptor]
- Autoimmune lymphoproliferative syndrome [ICD-11 More detail]
- 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 (disorder) [SNOMED CT concept]
- autoimmune lymphoproliferative syndrome [Disease (Nov.)]
- autoimmune lymphoproliferative syndrome [DO Concept]
DO Cross reference
- autoimmune lymphoproliferative syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Immunodeficiency syndrome with autoimmunity [ORDO Disease]
- Lymphoid hemopathy [ORDO Disease]
ORDO relation(s)
- Autoimmune lymphoproliferative syndrome [ORDO Disease]
Record concept(s)
- autoimmune lymphoproliferative syndrome [MeSH concept]
- autoimmune lymphoproliferative syndrome type 1, autosomal dominant [MeSH concept]
- autoimmune lymphoproliferative syndrome type 2B [MeSH concept]
Related MeSH Supplementary Concept(s)
- autoimmune lymphoproliferative syndrome, type I, autosomal recessive [MeSH Supplementary Concept]
- autoimmune lymphoproliferative syndrome, type IA [MeSH Supplementary Concept]
- autoimmune lymphoproliferative syndrome, type IB [MeSH Supplementary Concept]
- autoimmune lymphoproliferative syndrome, type IIA [MeSH Supplementary Concept]
- dianzani autoimmune lymphoproliferative syndrome [MeSH Supplementary Concept]
See also
- caspase 10 [MeSH Descriptor]
- caspase 8 [MeSH Descriptor]
- fas Receptor [MeSH Descriptor]
- glucocorticoid-induced tnfr-related protein [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autoimmune Lymphoproliferative Syndrome [NCIt concept]
- Autoimmune lymphoproliferative syndrome [MedDRA Preferred Term]
- Autoimmune lymphoproliferative syndrome [OMIM Phenotype]
- Autoimmune lymphoproliferative syndrome [ORDO Disease]
- Autoimmune lymphoproliferative syndrome [ICD-9 code]
- Autoimmune lymphoproliferative syndrome [PASCAL descriptor]
- Autoimmune lymphoproliferative syndrome [ICD-11 More detail]
- Autoimmune lymphoproliferative syndrome (disorder) [SNOMED CT concept]
- autoimmune lymphoproliferative syndrome [DO Concept]
- autoimmune lymphoproliferative syndrome [Disease (Nov.)]
Validated automatic mappings to BTNT
- autoimmune lymphoproliferative syndrome type 2B [DO Concept]
- autoimmune lymphoproliferative syndrome type IIb [Disease (Nov.)]

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