severe combined immunodeficiency

Preferred Label : severe combined immunodeficiency;

MeSH definition : Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).;

MeSH synonym : severe combined immunologic deficiency; severe combined immunodeficiencies; combined immunodeficiency, severe; immunologic deficiency, severe combined; combined immunodeficiencies, severe; immunodeficiencies, severe combined; severe combined immunodeficiency syndrome; immunodeficiency syndrome, severe combined; immunodeficiency, severe combined; Severe Combined Immune Deficiency;

CISMeF acronym : SCID;

MeSH hyponym : omenn syndrome; Syndrome, Omenn; Reticuloendotheliosis, Familial; Familial Reticuloendothelioses; Familial Reticuloendotheliosis; Reticuloendothelioses, Familial; Omenn's Syndrome; Omenns Syndrome; Syndrome, Omenn's;

Related MeSH term : bare lymphocyte syndrome; Bare Lymphocyte Syndromes; Lymphocyte Syndrome, Bare; Lymphocyte Syndromes, Bare; Syndrome, Bare Lymphocyte; Syndromes, Bare Lymphocyte;

Wikipedia link : https://en.wikipedia.org/wiki/Bare lymphocyte syndrome;

Details

Origin ID

D016511;

UMLS CUI

C0085110;

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)
- Autosomal recessive severe combined immunodeficiency (disorder) [SNOMED CT concept]
- Bare Lymphocyte Syndrome [NCIt concept]
- Bare lymphocyte syndrome, type II [OMIM Phenotype]
- CPTAC Case Identifier [NCIt concept]
- Central diabetes insipidus [ORDO Disease]
- Histiocytic medullary reticulosis (disorder) [SNOMED CT concept]
- IL2RG wt Allele [NCIt concept]
- Major histocompatibility complex class I deficiency [ICD-10 Sub-category]
- Major histocompatibility complex class I deficiency [ICD-10 Sub-category (who)]
- Omenn Syndrome [NCIt concept]
- Omenn syndrome [PASCAL descriptor]
- Omenn syndrome [DO Concept]
- Omenn syndrome [MedDRA Preferred Term]
- Omenn syndrome [ORDO Disease]
- Omenn syndrome [OMIM Phenotype]
- SCID Mouse [NCIt concept]
- Severe combined immunodeficiency due to LCK deficiency [ICD-11 More detail]
- Severe combined immunodeficiency due to absent class II human leukocyte antigens (disorder) [SNOMED CT concept]
- Severe combined immunodeficiency with hypereosinophilia (disorder) [SNOMED CT concept]
- flowerpecker, nos [SNOMED Notion]
- immune system and disorders [MedlinePlus Topic]
- scid due to absent class ii hla antigens [SNOMED Notion]
Currated CISMeF NLP mapping
- Severe Combined Immunodeficiency [NCIt concept]
- Severe combined immune deficiency syndrome/SCID [HRDO Sign]
- Severe combined immunodeficiencies [ICD-11 Sub-sub category]
- Severe combined immunodeficiency [PASCAL descriptor]
- Severe combined immunodeficiency [HPO term]
- Severe combined immunodeficiency [LOINC component]
- Severe combined immunodeficiency [ORDO Disease]
- Severe combined immunodeficiency disease (disorder) [SNOMED CT concept]
- Severe combined immunodeficiency syndrome [MedDRA LLT]
- severe combined immunodeficiency [DO Concept]
- severe combined immunodeficiency [Disease (Nov.)]
- severe combined immunodeficiency disease, nos [SNOMED Notion]
- severe combined immunodeficiency disease, nos [TUV Term]
DO Cross reference
- MHC class II deficiency [DO Concept]
- severe combined immunodeficiency [DO Concept]
HPO term
- Severe combined immunodeficiency [HPO term]
Has phenotype(s) (HPO)
- Increased frequency of bacterial, viral, and fungal infections [HPO term]
Indexing information
- RFXANK protein, human [MeSH Supplementary Concept]
- pegademase bovine [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Combined T and B cell immunodeficiency [ORDO Disease]
MedlinePlus topic(s)
- immune system and disorders [MedlinePlus Topic]
ORDO relation(s)
- Severe combined immunodeficiency [ORDO Disease]
Record concept(s)
- bare lymphocyte syndrome [MeSH concept]
- omenn syndrome [MeSH concept]
- severe combined immunodeficiency [MeSH concept]
Related MeSH Supplementary Concept(s)
- HLA class 1 deficiency [MeSH Supplementary Concept]
- Short-Limb skeletal dysplasia with severe combined immunodeficiency [MeSH Supplementary Concept]
- T-cell immunodeficiency, congenital alopecia and nail dystrophy [MeSH Supplementary Concept]
- ZAP70 deficiency [MeSH Supplementary Concept]
- athabaskan severe combined immunodeficiency [MeSH Supplementary Concept]
- bare lymphocyte syndrome 2 [MeSH Supplementary Concept]
- bare lymphocyte syndrome, type I [MeSH Supplementary Concept]
- bare lymphocyte syndrome, type II, complementation group A [MeSH Supplementary Concept]
- combined cellular and humoral immune defects with granulomas [MeSH Supplementary Concept]
- immune dysfunction with T-cell inactivation due to calcium entry defect 1 [MeSH Supplementary Concept]
- immune dysfunction with T-cell inactivation due to calcium entry defect 2 [MeSH Supplementary Concept]
- reticular dysgenesis [MeSH Supplementary Concept]
- reticuloendotheliosis, X-linked [MeSH Supplementary Concept]
- reticuloendotheliosis, familial, with eosinophilia [MeSH Supplementary Concept]
- severe combined immunodeficiency due to adenosine deaminase deficiency [MeSH Supplementary Concept]
- severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation [MeSH Supplementary Concept]
- severe combined immunodeficiency with sensitivity to ionizing radiation [MeSH Supplementary Concept]
- severe combined immunodeficiency, atypical [MeSH Supplementary Concept]
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive [MeSH Supplementary Concept]
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative [MeSH Supplementary Concept]
- severe combined immunodeficiency, autosomal recessive, T cell negative, B cell positive, NK cell positive [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- adenosine deaminase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe Combined Immunodeficiency [NCIt concept]
- Severe combined immune deficiency syndrome/SCID [HRDO Sign]
- Severe combined immunodeficiencies [ICD-11 Sub-sub category]
- Severe combined immunodeficiency [ORDO Disease]
- Severe combined immunodeficiency [LOINC component]
- Severe combined immunodeficiency [HPO term]
- Severe combined immunodeficiency [PASCAL descriptor]
- Severe combined immunodeficiency disease (disorder) [SNOMED CT concept]
- Severe combined immunodeficiency syndrome [MedDRA LLT]
- severe combined immunodeficiency [DO Concept]
- severe combined immunodeficiency disease, nos [SNOMED Notion]
- severe combined immunodeficiency disease, nos [TUV Term]
Validated automatic mappings to BTNT
- Omenn syndrome [Disease (Nov.)]
- bare lymphocyte syndrome [Disease (Nov.)]

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