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

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated RAC2 defect

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

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

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Reference Sets

GB English

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