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1351235001: Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated Rac family small GTPase 2 defect (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5405980013 Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated Rac family small GTPase 2 defect en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5405981012 Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated RAC2 defect en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5405982017 Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated Rac family small GTPase 2 defect (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5405983010 Autosomal dominant T-B- SCID (severe combined immunodeficiency) due to activated RAC2 defect en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated RAC2 defect Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated RAC2 defect Is a Severe combined immunodeficiency with low T- and B-cell numbers true Inferred relationship Some
Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated RAC2 defect Occurrence Congenital true Inferred relationship Some 1
Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated RAC2 defect Finding site Structure of immune system (body structure) true Inferred relationship Some 2
Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated RAC2 defect Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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