x-linked combined immunodeficiency diseases

Preferred Label : x-linked combined immunodeficiency diseases;

MeSH definition : Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified.;

MeSH synonym : x-linked immunodeficiency syndrome; x-linked immunodeficiency syndromes; immunodeficiency diseases, x linked combined; immunodeficiency diseases, x-linked; x-linked severe combined immunodeficiency; immunodeficiency syndrome, x-linked; x-linked immunodeficiency disease; x-linked immunodeficiency diseases; immunodeficiency diseases, x-linked combined; immunodeficiency 4; immunodeficiency disease, x-linked; immunodeficiency syndromes, x-linked; x linked immunodeficiency syndrome; x linked immunodeficiency disease; x linked severe combined immunodeficiency; X-Linked combined immunodeficiency; immunodeficiency, X-Linked combined; X linked combined immunodeficiency; X-Linked combined immunodeficiencies; immunodeficiency 6; combined immunodeficiency, X-Linked; combined immunodeficiency, X linked; X linked combined immunodeficiency diseases; severe combined immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, NK Cell-Negative; XSCID; SCID, X-Linked; SCID, X linked; SCIDs, X-Linked; X-Linked SCIDs; SCIDX; SCIDX1; severe combined immunodeficiency, X-Linked; severe combined immunodeficiency, X linked; severe combined immunodeficiency, X-Linked, T cell negative, B cell positive, NK cell negative; X-Linked SCID; X linked SCID; X-SCID;

CISMeF synonym : syndromes, x-linked immunodeficiency;

Related MeSH term : combined immunodeficiencies, x-linked;

Details

Origin ID

D053632;

UMLS CUI

C1279481;

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)
- DICER1 wt Allele [NCIt concept]
- Disseminated intravascular coagulation [ICD-11 Category]
- Endoribonuclease Dicer [NCIt concept]
- IL2RG wt Allele [NCIt concept]
- PR - Maximum Pain Relief For Various Time Periods of Evaluation [NCIt concept]
- PR - Minimum Pain Relief For Various Time Periods of Evaluation [NCIt concept]
- X linked severe combined immunodeficiency [MedDRA LLT]
- interleukin 2 receptor subunit gamma [ORDO Gene]
- severe combined immunodeficiency disease, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Severe combined immunodeficiency T- B+ due to gamma chain deficiency [ICD-11 More detail]
- Severe combined immunodeficiency, X-linked [OMIM Phenotype]
- T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency (disorder) [SNOMED CT concept]
- T-B+ severe combined immunodeficiency due to gamma chain deficiency [ORDO Disease]
- X-Linked Severe Combined Immunodeficiency [NCIt concept]
- X-linked severe combined immunodeficiency [DO Concept]
- X-linked severe combined immunodeficiency (disorder) [Inactive SNOMED CT concept]
DO Cross reference
- X-linked severe combined immunodeficiency [DO Concept]
False automatic mappings
- Central diabetes insipidus [ORDO Disease]
Record concept(s)
- X-Linked combined immunodeficiency diseases [MeSH concept]
Related MeSH Supplementary Concept(s)
- woods black norbury syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined immunodeficiency, X-linked [OMIM Phenotype]
- Severe combined immunodeficiency T- B+ due to gamma chain deficiency [ICD-11 More detail]
- Severe combined immunodeficiency, X-linked [OMIM Phenotype]
- X linked severe combined immunodeficiency [MedDRA LLT]
- X-Linked Severe Combined Immunodeficiency [NCIt concept]
- X-linked severe combined immunodeficiency [DO Concept]
- X-linked severe combined immunodeficiency (disorder) [Inactive SNOMED CT concept]
Validated automatic mappings to NTBT
- Combined immunodeficiency, X-linked [OMIM Phenotype]

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