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1351647002: Autosomal dominant agammaglobulinemia due to PU.1 deficiency (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
5408239013 Agammaglobulinemia due to SPI1 defect en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5408240010 Agammaglobulinaemia due to SPI1 defect en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5408241014 Autosomal dominant agammaglobulinaemia due to PU.1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5408242019 Autosomal dominant agammaglobulinemia due to PU.1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5408243012 Autosomal dominant agammaglobulinemia due to PU.1 deficiency (disorder) en Fully specified name 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 agammaglobulinaemia due to PU.1 deficiency Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant agammaglobulinaemia due to PU.1 deficiency Is a Congenital agammaglobulinemia true Inferred relationship Some
Autosomal dominant agammaglobulinaemia due to PU.1 deficiency Occurrence Congenital true Inferred relationship Some 1
Autosomal dominant agammaglobulinaemia due to PU.1 deficiency Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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