job syndrome - CISMeF

Preferred Label : job syndrome;

MeSH definition : Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.;

MeSH synonym : hyperimmunoglobulin e-recurrent infection syndrome; hyperimmunoglobulin e recurrent infection syndrome; hyper-ige syndrome; hyper ige syndrome; hyper-ige syndromes; jobs syndrome; hyperimmunoglobulinemia E syndrome; hyperimmunoglobulinemia E syndromes; hyperimmunoglobulin E, recurrent infection syndrome; job syndromes; syndrome, job; syndromes, job; HIE syndrome; HIE syndromes; buckley syndrome; buckley syndromes; Job-Buckley syndrome; job buckley syndrome; Job-Buckley syndromes; job's syndrome;

CISMeF synonym : Job; job's's syndrome; syndrome, HIE; syndrome, Job-Buckley; syndrome, buckley; syndrome, hyper-ige; syndrome, hyperimmunoglobulinemia E; syndrome, job's; syndromes, HIE; syndromes, Job-Buckley; syndromes, buckley; syndromes, hyperimmunoglobulinemia E;

MeSH hyponym : Hyper-Immunoglobulin E syndrome, autosomal dominant; Hyper-Immunoglobulin E syndrome, autosomal recessive; Hyper Immunoglobulin E Syndrome, Autosomal Recessive; Hyper-IgE Recurrent Infection Syndrome, Autosomal Recessive; Hyper IgE Recurrent Infection Syndrome, Autosomal Recessive; Hyper-IgE Syndrome, Autosomal Recessive; Hyper IgE Syndrome, Autosomal Recessive; HIES, Autosomal Recessive; Autosomal Recessive HIES; Autosomal Recessive HIESs; HIESs, Autosomal Recessive; Hyper Immunoglobulin E Syndrome, Autosomal Dominant; Hyper-IgE Syndrome, Autosomal Dominant; Hyper IgE Syndrome, Autosomal Dominant; HIES, Autosomal Dominant; Autosomal Dominant HIES; Autosomal Dominant HIESs; HIESs, Autosomal Dominant;

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

Details

Origin ID

D007589;

UMLS CUI

C3887645;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [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)
- ADH [MedDRA LLT]
- Autosomal dominant hyperimmunoglobulin E syndrome [ICD-11 More detail]
- Autosomal recessive hyper-IgE syndrome [ORDO Disease]
- Computer Job [NCIt concept]
- DOCK8 Deficiency [NCIt concept]
- Hyper-ige syndrome 2, autosomal recessive, with recurrent infections [OMIM Phenotype]
- Hypercholesterolemia, familial, 4 [OMIM Phenotype]
- Job [LOINC component]
- Job ID [EDAM data]
- Job number [LOINC component]
- Job problems [MedDRA LLT]
- Occupation [NCIt concept]
- Occupation (occupation) [SNOMED CT concept]
- hyper IgE recurrent infection syndrome 1 [DO Concept]
- hyper IgE syndrome [DO Concept]
Currated CISMeF NLP mapping
- Autosomal dominant hyper-IgE syndrome [ORDO Disease]
- Buckley's syndrome [MedDRA LLT]
- Hyper IgE syndrome [MedDRA Preferred Term]
- Hyper-IgE syndrome [ORDO Disease]
- Hyper-ige syndrome 1, autosomal dominant, with recurrent infections [OMIM Phenotype]
- Hyperimmunoglobulin E [IgE] syndrome [ICD-10 Sub-category]
- Hyperimmunoglobulin E [IgE] syndrome [ICD-10 Sub-category (who)]
- Hyperimmunoglobulin E syndromes [ICD-11 Sub-sub category]
- Hyperimmunoglobulinemia E syndrome [PASCAL descriptor]
- Job's syndrome [MedDRA LLT]
- Job's syndrome (disorder) [SNOMED CT concept]
- STAT3 Deficiency [NCIt concept]
- hyperimmunoglobulin E syndrome [Disease (Nov.)]
- hyperimmunoglobulin e syndrome [SNOMED Notion]
- job's syndrome [SNOMED Notion]
DO Cross reference
- hyper IgE recurrent infection syndrome 1 [DO Concept]
False automatic mappings
- Vasopressin [ICD-11 Extension code]
Manual NTBT mappings (CISMeF)
- Genetic immune deficiency with skin involvement [ORDO Disease]
- Immune deficiency with skin involvement [ORDO Disease]
- Other complex syndrome of primary immunodeficiency [ORDO Disease]
Record concept(s)
- Hyper-Immunoglobulin E syndrome, autosomal dominant [MeSH concept]
- Hyper-Immunoglobulin E syndrome, autosomal recessive [MeSH concept]
- job syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Hyper-Ige recurrent infection syndrome, autosomal dominant [MeSH Supplementary Concept]
- tyrosine kinase 2 deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Buckley's syndrome [MedDRA LLT]
- Hyper IgE syndrome [MedDRA Preferred Term]
- Hyper-IgE syndrome [ORDO Disease]
- Hyper-ige syndrome 1, autosomal dominant, with recurrent infections [OMIM Phenotype]
- Hyperimmunoglobulin E Syndrome [NCIt concept]
- Hyperimmunoglobulin E [IgE] syndrome [ICD-10 Sub-category]
- Hyperimmunoglobulinemia E syndrome [PASCAL descriptor]
- Job's syndrome [MedDRA LLT]
- Job's syndrome (disorder) [SNOMED CT concept]
- hyperimmunoglobulin E syndrome [Disease (Nov.)]
Validated automatic mappings to BTNT
- Autosomal recessive hyperimmunoglobulin E syndrome [ICD-11 More detail]
Validated automatic mappings to NTBT
- Hyperimmunoglobulin E Syndrome [NCIt concept]

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