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X-linked agammaglobulinemia (CUI C0221026) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0221026

NCI Thesaurus Code: C3822  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: X-linked agammaglobulinemia. An immunodeficiency state characterized (usually) by profoundly low concentrations of serum immunoglobulins of all classes, although occasionally significant amounts of one or more isotypes can be found. The fundamental defect in XLA affects early lineage B cells.

GARD Definition: X-linked agammaglobulinema is a genetic condition that affects the immune system and occurs almost exclusively in males. Affected individuals have very few B cells in the body, which produce antibodies called immunoglobulins that help protect the body against infection. Those with this condition are more susceptible to infections because their body makes very few of these antibodies.This condition is inherited in an X-linked recessive pattern and is caused by mutations in the BTK gene. - this information is from GARD/ORDR/NCATS.

Synonyms & Abbreviations: (see Synonym Details)
Agammaglobulinemia, Bruton tyrosine kinase
Agammaglobulinemia, BTK
AGAMMAGLOBULINEMIA, CONGENITAL
AGAMMAGLOBULINEMIA, SEX-LINKED
AGAMMAGLOBULINEMIA, X-LINKED INFANTILE
AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1
Agammaglobulinemia, X-Linked, Type I
Agammaglobulinemia, X-Linked
AGMX1
BRUTON DISEASE
Bruton type agammaglobulinemia
Bruton's agammaglobulinaemia
Bruton's agammaglobulinemia
Bruton's hypogammaglobulinaemia
Bruton's hypogammaglobulinemia
Bruton's Sex-Linked Agammaglobulinemia
Bruton's type agammaglobulinaemia
Bruton's type agammaglobulinemia
Bruton's X-Linked Agammaglobulinemia
Bruton-type (congenital X-linked) agammaglobulinemia
Bruton-Type Agammaglobulinemia
BTK-deficiency
CONGENITAL AGAMMAGLOBULINEMIA
IMD1
Immunodeficiency 1
X linked agammaglobulinaemia
X linked agammaglobulinemia
X-linked agammaglobulinaemia
X-linked agammaglobulinemia (disorder)
X-linked agammaglobulinemia
XLA - X-linked agammaglobulinaemia
XLA - X-linked agammaglobulinemia
XLA

External Source Codes: 
NCI Thesaurus Code C3822 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CTV3ID X20Gc SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 7712 GARD
DISEASE_IDENTIFIER_ID 7713 GARD
DISEASE_IDENTIFIER_ID 7714 GARD
DISEASE_IDENTIFIER_ID 7715 GARD
DISEASE_IDENTIFIER_ID 7716 GARD
DISEASE_IDENTIFIER_ID 7717 GARD
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FR 138 MSH
GENELOCUS ,X,q,2,1,.,3,-,q,2,2, OMIM
GENESYMBOL AGMX1 OMIM
GENESYMBOL AT OMIM
GENESYMBOL BTK OMIM
GENESYMBOL IMD1 OMIM
GENESYMBOL XLA OMIM
HAS_GARD_PAGE true GARD
HM D000361 MSH
HM D040181 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 20100825 MSH
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20150817 MSH
PRIMARY_PATH 10060360$10021424$10021429$10010331$Bruton's agammaglobulinaemia$Immune system abnormalities congenital$Immune system disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/1033/x-linked-agammaglobulinemia/resources/1 GARD
RN 0 MSH
SC 3 MSH
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SOS A hereditary immunodeficiency due to the failure of B-LYMPHOCYTES to mature and rearrangement failure of IG HEAVY CHAINS. Mutations in Agammaglobulinaemia tyrosine kinase (BTK gene) can cause X-linked AGAMMAGLOBULINEMIA type 1 (XLA). OMIM: 300755 MSH
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS D80.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~D80.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS D80.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~D80.0 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X20Gc SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T742491 MSH
TERMUI T742492 MSH
TERMUI T742493 MSH
TERMUI T742494 MSH
TERMUI T750266 MSH
TERMUI T800731 MSH
TERMUI T800732 MSH
TERMUI T800735 MSH
TERMUI T800736 MSH
TERMUI T842719 MSH
TERMUI T842720 MSH
TH GHR (2014) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0221026

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