31323000: Severe combined immunodeficiency disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease

\Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease
\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease
\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease

\Fetal and/or neonatal disorder\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease

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

Descriptions:

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 (disorder)	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
déficit immunitaire combiné sévère dû à l'absence d'antigènes leucocytaires humains de classe II	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 (disorder)	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
déficit en complexe majeur d'histocompatibilité classe I	Is a	False	Severe combined immunodeficiency disease	Inferred relationship	Some
A rare autosomal recessive primary immunodeficiency characterized 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 hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood.	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 (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.	Is a	True	Severe combined immunodeficiency disease	Inferred relationship	Some
Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.	Is a	False	Severe combined immunodeficiency disease	Inferred relationship	Some
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	Some

This concept is not in any reference sets

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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
4491181000241115	immunodéficience combinée sévère	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module