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783743009: Combined immunodeficiency with granulomatosis (disorder)

  • SNOMED CT Concept\Clinical finding (finding)\Disease\...
    • \Genetic disease\A rare genetic non-severe combined immunodeficiency disease with characteristics of immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs and various autoimmune manifestations (including cytopenia, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed.
    • \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\A rare genetic non-severe combined immunodeficiency disease with characteristics of immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs and various autoimmune manifestations (including cytopenia, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed.
    • \Inflammatory disorder (disorder)\Granulomatosis (disorder)\A rare genetic non-severe combined immunodeficiency disease with characteristics of immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs and various autoimmune manifestations (including cytopenia, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3760130017 Combined immunodeficiency with granulomatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3760131018 Combined immunodeficiency due to RAG 1/2 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3760132013 Combined immunodeficiency with granulomatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3760133015 Combined immunodeficiency due to RAG 1/2 (recombination activating gene 1/2) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3760136011 A rare genetic non-severe combined immunodeficiency disease with characteristics of immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs and various autoimmune manifestations (including cytopenia, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinaemia, abnormal specific antibody production and impaired T-cell function are observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3760137019 A rare genetic non-severe combined immunodeficiency disease with characteristics of immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs and various autoimmune manifestations (including cytopenia, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3760130017 Combined immunodeficiency with granulomatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3760131018 Combined immunodeficiency due to RAG 1/2 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3760132013 Combined immunodeficiency with granulomatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3760133015 Combined immunodeficiency due to RAG 1/2 (recombination activating gene 1/2) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3760136011 A rare genetic non-severe combined immunodeficiency disease with characteristics of immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs and various autoimmune manifestations (including cytopenia, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinaemia, abnormal specific antibody production and impaired T-cell function are observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3760137019 A rare genetic non-severe combined immunodeficiency disease with characteristics of immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs and various autoimmune manifestations (including cytopenia, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3407861001000118 Immundefekt, kombinierter, mit Granulomatose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5591961000241114 immunodéficience combinée à une granulomatose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5591961000241114 immunodéficience combinée à une granulomatose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3407861001000118 Immundefekt, kombinierter, mit Granulomatose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare genetic non-severe combined immunodeficiency disease with characteristics of immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs and various autoimmune manifestations (including cytopenia, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed. Is a Combined immunodeficiency disease true Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic non-severe combined immunodeficiency disease with characteristics of immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs and various autoimmune manifestations (including cytopenia, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed. Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic non-severe combined immunodeficiency disease with characteristics of immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs and various autoimmune manifestations (including cytopenia, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed. Is a Granulomatosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic non-severe combined immunodeficiency disease with characteristics of immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs and various autoimmune manifestations (including cytopenia, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed. Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic non-severe combined immunodeficiency disease with characteristics of immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs and various autoimmune manifestations (including cytopenia, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed. Associated morphology Granulomatosis true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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