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1371275005: Autosomal recessive severe combined immunodeficiency due to DNA polymerase delta 3, accessory subunit deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Aug 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5472858011 Autosomal recessive severe combined immunodeficiency due to DNA polymerase delta 3, accessory subunit deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5472859015 Autosomal recessive severe combined immunodeficiency due to DNA polymerase delta 3, accessory subunit deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5472860013 Autosomal recessive severe combined immunodeficiency due to DNA POLD3 deficiency 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 severe combined immunodeficiency due to DNA polymerase delta 3, accessory subunit deficiency (disorder) Is a Autosomal recessive severe combined immunodeficiency disease (disorder) true Inferred relationship Some
Autosomal recessive severe combined immunodeficiency due to DNA polymerase delta 3, accessory subunit deficiency (disorder) Occurrence Congenital true Inferred relationship Some 1
Autosomal recessive severe combined immunodeficiency due to DNA polymerase delta 3, accessory subunit deficiency (disorder) Finding site Body system structure true Inferred relationship Some 2
Autosomal recessive severe combined immunodeficiency due to DNA polymerase delta 3, accessory subunit deficiency (disorder) 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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