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362993009: Autosomal recessive severe combined immunodeficiency disease (disorder)

Status: current, Defined. 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 Active Case insensitive SNOMED CT core
2914598012 Autosomal recessive severe combined immunodeficiency disease (disorder) en Fully specified name Active Case insensitive SNOMED CT core
5065843011 Autosomal recessive SCID (severe combined immunodeficiency disease) en Synonym Active Initial character case insensitive SNOMED CT core

23 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive SCID (severe combined immunodeficiency disease) Pathological process Abnormal immune process true Inferred relationship Some 3
Autosomal recessive SCID (severe combined immunodeficiency disease) Is a Severe combined immunodeficiency disease true Inferred relationship Some
Autosomal recessive SCID (severe combined immunodeficiency disease) Occurrence Congenital true Inferred relationship Some 1
Autosomal recessive SCID (severe combined immunodeficiency disease) Finding site Body system structure true Inferred relationship Some 2
Autosomal recessive SCID (severe combined immunodeficiency disease) Has definitional manifestation Immune system finding false Inferred relationship Some
Autosomal recessive SCID (severe combined immunodeficiency disease) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive SCID (severe combined immunodeficiency disease) Is a Hereditary disorder of immune system false Inferred relationship Some
Autosomal recessive SCID (severe combined immunodeficiency disease) Finding site Structure of immune system false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Severe combined immunodeficiency due to CARD11 deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Severe combined immunodeficiency due to IKK2 deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Severe combined immunodeficiency due to LCK deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Short-limb skeletal dysplasia with severe combined immunodeficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Severe combined immunodeficiency due to LAT deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Severe combined immunodeficiency due to CORO1A deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Autosomal recessive severe combined immunodeficiency Is a False Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Adenosine deaminase deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Severe combined immunodeficiency due to DCLRE1C deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Combined immunodeficiency due to ZAP70 deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Cernunnos-XLF deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Alymphoid cystic thymic dysgenesis Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Omenn syndrome Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Hepatic veno-occlusive disease with immunodeficiency syndrome Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
LIG4 syndrome Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Combined immunodeficiency due to CD3-gamma deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Immunodeficiency by defective expression of HLA class 1 Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Combined immunodeficiency due to partial RAG1 deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some
Severe combined immunodeficiency due to CTPS1 deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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