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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

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 Some
Severe combined immunodeficiency disease Is a Primary immune deficiency disorder false Inferred relationship Some
Severe combined immunodeficiency disease Finding site Structure of immune system (body structure) false Inferred relationship Some
Severe combined immunodeficiency disease Occurrence Congenital true Inferred relationship Some 1
Severe combined immunodeficiency disease Severity Severe false Inferred relationship Some
Severe combined immunodeficiency disease Is a Hereditary disorder of immune system true Inferred relationship Some
Severe combined immunodeficiency disease Finding site Body system structure true Inferred relationship Some 2
Severe combined immunodeficiency disease Has definitional manifestation Immune system finding false Inferred relationship Some
Severe combined immunodeficiency disease Is a Combined immunodeficiency disease true Inferred relationship Some
Severe combined immunodeficiency disease Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 3
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive severe combined immunodeficiency Is a False Severe combined immunodeficiency disease Inferred relationship Some
X-linked severe combined immunodeficiency Is a False Severe combined immunodeficiency disease Inferred relationship Some
Severe combined immunodeficiency with maternofetal engraftment Is a True Severe combined immunodeficiency disease Inferred relationship Some
Warts, hypogammaglobulinaemia, infections, and myelokathexis Is a True Severe combined immunodeficiency disease Inferred relationship Some
Benign combined immunodeficiency Is a False Severe combined immunodeficiency disease Inferred relationship Some
SCID due to absent IL-2 receptor Is a True Severe combined immunodeficiency disease Inferred relationship Some
Severe combined immunodeficiency due to absent lymphoid stem cells (disorder) Is a True Severe combined immunodeficiency disease Inferred relationship Some
Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder) Is a True Severe combined immunodeficiency disease Inferred relationship Some
Severe combined immunodeficiency due to absent adenosine deaminase (disorder) Is a True Severe combined immunodeficiency disease Inferred relationship Some
Adenosine deaminase deficiency Is a False Severe combined immunodeficiency disease Inferred relationship Some
Severe combined immunodeficiency due to absent interleukin-2 production (disorder) Is a True Severe combined immunodeficiency disease Inferred relationship Some
Severe combined immunodeficiency due to absent T cell receptor (disorder) Is a True Severe combined immunodeficiency disease Inferred relationship Some
Nezelof's syndrome Is a True Severe combined immunodeficiency disease Inferred relationship Some
Severe combined immunodeficiency due to absent class II human leukocyte antigens Is a False Severe combined immunodeficiency disease Inferred relationship Some
Severe combined immunodeficiency with reticular dysgenesis (disorder) Is a False Severe combined immunodeficiency disease Inferred relationship Some
Severe combined immunodeficiency with low T- and B-cell numbers Is a True Severe combined immunodeficiency disease Inferred relationship Some
Severe combined immunodeficiency with low or normal B-cell numbers Is a True Severe combined immunodeficiency disease Inferred relationship Some
Major histocompatibility complex class I deficiency Is a False Severe combined immunodeficiency disease Inferred relationship Some
Major histocompatibility complex class II deficiency Is a False Severe combined immunodeficiency disease Inferred relationship Some
Combined immunity deficiency NOS Is a False Severe combined immunodeficiency disease Inferred relationship Some
Autosomal recessive severe combined immunodeficiency disease (disorder) Is a True Severe combined immunodeficiency disease Inferred relationship Some
Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder) Is a True Severe combined immunodeficiency disease Inferred relationship Some
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) Is a True Severe combined immunodeficiency disease Inferred relationship Some
T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency Is a False Severe combined immunodeficiency disease Inferred relationship Some
T-cell negative B-cell positive severe combined immunodeficiency (disorder) Is a True Severe combined immunodeficiency disease Inferred relationship Some

This concept is not in any reference sets

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