362993009: autosomaal recessieve ernstige gecombineerde immunodeficiëntie (aandoening)

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

\Genetic disease\Hereditary disease\...

\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)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive severe combined immunodeficiency disease (disorder)	Is a	Hereditary disorder of immune system	false	Inferred relationship	Some
Autosomal recessive severe combined immunodeficiency disease (disorder)	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Autosomal recessive severe combined immunodeficiency disease (disorder)	Is a	Severe combined immunodeficiency disease	true	Inferred relationship	Some
Autosomal recessive severe combined immunodeficiency disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive severe combined immunodeficiency disease (disorder)	Finding site	Body system structure	true	Inferred relationship	Some	2
Autosomal recessive severe combined immunodeficiency disease (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Autosomal recessive severe combined immunodeficiency disease (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive severe combined immunodeficiency disease (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
autosomaal recessieve agammaglobulinemie	Is a	False	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Adenosine deaminase deficiency	Is a	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)	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder)	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder)	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Severe combined immunodeficiency with hypereosinophilia (disorder)	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Ligase 4 syndrome (disorder)	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Combined immunodeficiency due to CD3gamma deficiency (disorder)	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Immunodeficiency by defective expression of human leukocyte antigen class 1 (disorder)	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder)	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Severe combined immunodeficiency due to CTPS1 deficiency	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Severe combined immunodeficiency due to CARD11 deficiency	Is a	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)	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder)	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Severe combined immunodeficiency due to linker for activation of T cells deficiency (disorder)	Is a	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)	Is a	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	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some
Severe combined immunodeficiency due to CORO1A deficiency	Is a	True	Autosomal recessive severe combined immunodeficiency disease (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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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
6192091000146117	autosomaal recessieve SCID	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6259491000146110	autosomaal recessieve ernstige gecombineerde immuundeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6259501000146117	autosomaal recessieve ernstige gecombineerde immunodeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6644461000146115	autosomaal recessieve 'severe combined immunodeficiency disorder'	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7069011000146111	autosomaal recessieve ernstige gecombineerde immunodeficiëntie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)