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362993009: 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

25 descendants. Search Descendants:

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
Autosomal recessive severe combined immunodeficiency 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
Major histocompatibility complex class I deficiency Is a False 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 caspase recruitment domain family member 11 deficiency Is a False 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
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3 delta subunit of T-cell receptor complex mutation (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 CD3 epsilon subunit of T-cell receptor complex mutation (disorder) Is a True Autosomal recessive severe combined immunodeficiency disease (disorder) Inferred relationship Some
Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation Is a True Autosomal recessive severe combined immunodeficiency disease (disorder) Inferred relationship Some
Autosomal recessive T- B+ severe combined immunodeficiency due to SLP76 mutation 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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