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362993009: Autosomal recessive severe combined immunodeficiency disease (disorder)

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

Descriptions:

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

23 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive severe combined immunodeficiency disease Is a Hereditary disorder of immune system false Inferred relationship Existential restriction modifier
Autosomal recessive severe combined immunodeficiency disease Finding site Structure of immune system false Inferred relationship Existential restriction modifier
Autosomal recessive severe combined immunodeficiency disease Is a Severe combined immunodeficiency disease true Inferred relationship Existential restriction modifier
Autosomal recessive severe combined immunodeficiency disease Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Autosomal recessive severe combined immunodeficiency disease Finding site Body system structure true Inferred relationship Existential restriction modifier 2
Autosomal recessive severe combined immunodeficiency disease Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier
Autosomal recessive severe combined immunodeficiency disease Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Autosomal recessive severe combined immunodeficiency disease Pathological process Abnormal immune process true Inferred relationship Existential restriction modifier 3
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive severe combined immunodeficiency Is a False Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Adenosine deaminase deficiency Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Severe combined immunodeficiency with hypereosinophilia Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Hepatic veno-occlusive disease with immunodeficiency syndrome Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Ligase 4 syndrome Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Combined immunodeficiency due to CD3gamma deficiency Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Immunodeficiency by defective expression of human leukocyte antigen class 1 Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Combined immunodeficiency due to partial recombination-activating gene 1 deficiency Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Short-limb skeletal dysplasia with severe combined immunodeficiency Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Severe combined immunodeficiency due to linker for activation of T cells deficiency Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type C deficiency Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier
Severe combined immunodeficiency due to coronin 1A deficiency Is a True Autosomal recessive severe combined immunodeficiency disease Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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