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31323000: Severe combined immunodeficiency disease (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
52382015 Severe combined immunodeficiency disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484842011 Severe combined immunodeficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484843018 Combined T-cell and B-cell immunodeficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
762432015 Severe combined immunodeficiency disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5244230016 SCID - severe combined immunodeficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
52382015 Severe combined immunodeficiency disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
52382015 Severe combined immunodeficiency disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
52385018 SCID en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
484841016 SCID - Severe combined immunodeficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
484842011 Severe combined immunodeficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
484842011 Severe combined immunodeficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484843018 Combined T-cell and B-cell immunodeficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
762432015 Severe combined immunodeficiency disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
762432015 Severe combined immunodeficiency disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5244230016 SCID - severe combined immunodeficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4491181000241115 immunodéficience combinée sévère fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4491181000241115 immunodéficience combinée sévère fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

48 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Severe combined immunodeficiency disease Is a Congenital immunodeficiency disease true Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency disease Is a Primary immune deficiency disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency disease Finding site Structure of immune system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency disease Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe combined immunodeficiency disease Severity Severe false Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency disease Is a Hereditary disorder of immune system true Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency disease Finding site Body system structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe combined immunodeficiency disease Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency disease Is a Combined immunodeficiency disease true Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency disease 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
Autosomal recessive severe combined immunodeficiency Is a False Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked severe combined immunodeficiency Is a False Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with maternofetal engraftment Is a True Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Warts, hypogammaglobulinemia, infections, and myelokathexis (disorder) Is a True Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Benign combined immunodeficiency Is a False Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
SCID due to absent IL-2 receptor Is a True Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
SCID (severe combined immunodeficiency) due to absent lymphoid stem cells Is a True Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder) Is a True Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency due to absent adenosine deaminase (disorder) Is a True Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Adenosine deaminase deficiency Is a False Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency (SCID) due to absent interleukin (IL)-2 production (disorder) Is a True Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
SCID (severe combined immunodeficiency) due to absent T cell receptor Is a True Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Nezelof's syndrome Is a True Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Immundefekt durch MHC Klasse II-Expressionsdefekt Is a False Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder) Is a False Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with low T- and B-cell numbers Is a True Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with low or normal B-cell numbers Is a True Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
déficit en complexe majeur d'histocompatibilité classe I Is a False Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare autosomal recessive primary immunodeficiency characterised by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinaemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhoea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood. Is a False Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunity deficiency NOS Is a False Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive SCID (severe combined immunodeficiency disease) Is a True Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder) Is a True Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. Is a True Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency Is a False Severe combined immunodeficiency disease 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. Is a True Severe combined immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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