362993009: Autosomal recessive severe combined immunodeficiency disease (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive severe combined immunodeficiency disease (disorder)

\trouble de la fonction immunitaire\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)
\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)
\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)

\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)

\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2006. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2914355014 Autosomal recessive severe combined immunodeficiency disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2914598012 Autosomal recessive severe combined immunodeficiency disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5065843011 Autosomal recessive SCID (severe combined immunodeficiency disease) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive severe combined immunodeficiency disease (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	3
Autosomal recessive severe combined immunodeficiency disease (disorder)	est un(e) (attribut)	Severe combined immunodeficiency disease	true	Inferred relationship	Some
Autosomal recessive severe combined immunodeficiency disease (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Autosomal recessive severe combined immunodeficiency disease (disorder)	localisation d'une constatation (attribut)	structure d'un système corporel	true	Inferred relationship	Some	2
Autosomal recessive severe combined immunodeficiency disease (disorder)	est défini par la manifestation de (attribut)	Immune system finding	false	Inferred relationship	Some
Autosomal recessive severe combined immunodeficiency disease (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive severe combined immunodeficiency disease (disorder)	est un(e) (attribut)	Hereditary disorder of immune system	false	Inferred relationship	Some
Autosomal recessive severe combined immunodeficiency disease (disorder)	localisation d'une constatation (attribut)	structure du système immunitaire	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Severe combined immunodeficiency due to CARD11 deficiency	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency (disorder)	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder)	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Severe combined immunodeficiency due to linker for activation of T cells deficiency (disorder)	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency (disorder)	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Severe combined immunodeficiency due to CORO1A deficiency	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Autosomal recessive severe combined immunodeficiency	est un(e) (attribut)	False	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Adenosine deaminase deficiency	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency (disorder)	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder)	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder)	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Severe combined immunodeficiency with hypereosinophilia (disorder)	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Ligase 4 syndrome (disorder)	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Combined immunodeficiency due to CD3gamma deficiency (disorder)	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Immunodeficiency by defective expression of human leukocyte antigen class 1 (disorder)	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder)	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Severe combined immunodeficiency due to CTPS1 deficiency	est un(e) (attribut)	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2914355014	Autosomal recessive severe combined immunodeficiency disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2914598012	Autosomal recessive severe combined immunodeficiency disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5065843011	Autosomal recessive SCID (severe combined immunodeficiency disease)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core