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190997006: Severe combined immunodeficiency with low T- and B-cell numbers (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
293705018 Severe combined immunodeficiency with low T- and B-cell numbers en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
574645011 Severe combined immunodeficiency with low T- and B-cell numbers (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4848021000241113 immunodéficience sévère et combinée avec nombre faible en cellules T et B fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Severe combined immunodeficiency with low T- and B-cell numbers Is a Severe combined immunodeficiency disease true Inferred relationship Some
Severe combined immunodeficiency with low T- and B-cell numbers Severity Severe false Inferred relationship Some
Severe combined immunodeficiency with low T- and B-cell numbers Finding site Structure of immune system (body structure) true Inferred relationship Some 1
Severe combined immunodeficiency with low T- and B-cell numbers Occurrence Congenital true Inferred relationship Some 2
Severe combined immunodeficiency with low T- and B-cell numbers Is a Disorder of immune structure (disorder) true Inferred relationship Some
Severe combined immunodeficiency with low T- and B-cell numbers Has definitional manifestation Immune system finding false Inferred relationship Some
Severe combined immunodeficiency with low T- and B-cell numbers Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 3
Inbound Relationships Type Active Source Characteristic Refinability Group
Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia. Is a True Severe combined immunodeficiency with low T- and B-cell numbers Inferred relationship Some
Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency. Is a False Severe combined immunodeficiency with low T- and B-cell numbers Inferred relationship Some
A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens. Is a True Severe combined immunodeficiency with low T- and B-cell numbers Inferred relationship Some
Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia. Is a True Severe combined immunodeficiency with low T- and B-cell numbers Inferred relationship Some
A rare, combined T- and B-cell immunodeficiency characterized by failure to thrive, severe diarrhea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity. Is a True Severe combined immunodeficiency with low T- and B-cell numbers Inferred relationship Some
An extremely rare type of severe combined immunodeficiency (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. Is a True Severe combined immunodeficiency with low T- and B-cell numbers Inferred relationship Some
A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. Is a True Severe combined immunodeficiency with low T- and B-cell numbers Inferred relationship Some
Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated RAC2 defect Is a True Severe combined immunodeficiency with low T- and B-cell numbers Inferred relationship Some

This concept is not in any reference sets

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