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1351212004: Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to SLP76 mutation (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
5405849016 Autosomal recessive T- B+ severe combined immunodeficiency due to SLP76 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5405850016 Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to SLP76 mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5405851017 Autosomal recessive T-B+ SCID (T-cell negative, B-cell positive severe combined immunodeficiency) due to SLP76 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5405852012 Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to SLP76 mutation 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 recessive T- B+ severe combined immunodeficiency due to SLP76 mutation Is a T-cell negative B-cell positive severe combined immunodeficiency (disorder) true Inferred relationship Some
Autosomal recessive T- B+ severe combined immunodeficiency due to SLP76 mutation Is a Autosomal recessive severe combined immunodeficiency disease (disorder) true Inferred relationship Some
Autosomal recessive T- B+ severe combined immunodeficiency due to SLP76 mutation Occurrence Congenital true Inferred relationship Some 1
Autosomal recessive T- B+ severe combined immunodeficiency due to SLP76 mutation Finding site Body system structure true Inferred relationship Some 2
Autosomal recessive T- B+ severe combined immunodeficiency due to SLP76 mutation Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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