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1335927007: T-cell negative B-cell positive severe combined immunodeficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jun 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5362070011 T-cell negative B-cell positive severe combined immunodeficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5362071010 T-B+ SCID - T-cell negative B-cell positive severe combined immunodeficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5362072015 T-cell negative B-cell positive severe combined immunodeficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5362073013 T-B+ (T-cell negative B-cell positive) severe combined immunodeficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5362074019 A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5362075018 A group of rare monogenic primary immunodeficiency disorders characterised by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhoea and failure to thrive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5362070011 T-cell negative B-cell positive severe combined immunodeficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5362071010 T-B+ SCID - T-cell negative B-cell positive severe combined immunodeficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5362072015 T-cell negative B-cell positive severe combined immunodeficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5362073013 T-B+ (T-cell negative B-cell positive) severe combined immunodeficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5362074019 A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5362075018 A group of rare monogenic primary immunodeficiency disorders characterised by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhoea and failure to thrive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

12 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. Is a Severe combined immunodeficiency disease true Inferred relationship Existential restriction modifier (core metadata concept)
A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. Finding site Body system structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a True A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency due to CORO1A deficiency Is a True A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency due to LAT deficiency Is a True A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency Is a True A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. Inferred relationship Existential restriction modifier (core metadata concept)
T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency Is a True A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. Inferred relationship Existential restriction modifier (core metadata concept)
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency Is a True A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency (disorder) Is a True A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3 delta subunit of T-cell receptor complex mutation (disorder) Is a True A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3 epsilon subunit of T-cell receptor complex mutation (disorder) Is a True A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation Is a True A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to SLP76 mutation (disorder) Is a True A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency due to BCL11 transcription factor B deficiency (disorder) Is a True A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

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