Leaky Severe Combined Immunodeficiency

Preferred Label : Leaky Severe Combined Immunodeficiency;

NCIt synonyms : Leaky SCID;

NCIt definition : A form of severe combined immunodeficiency (SCID) that presents with T-cell counts that are higher than typical for SCID, and variable signs and symptoms including: itchy, erythematous skin, alopecia, hepatosplenomegaly, lymphadenopathy, anemia, thyroid dysfunction and diarrhea. T-cell counts may initially be noted to be within normal ranges since some may leak through into the peripheral blood affecting proper measurement.;

NCI Metathesaurus CUI : CL1648431;

Details

Origin ID

C179188;

UMLS CUI

C5555517;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
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- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
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- Immune System [NCIt concept]
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- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]

Keyword's position in hierarchy(ies) :

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