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1351668001: Autosomal dominant agammaglobulinemia due to E47 transcription factor 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
5414364014 Autosomal dominant agammaglobulinaemia due to E47 transcription factor deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5414365010 Autosomal dominant agammaglobulinemia due to E47 transcription factor deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5414366011 Autosomal dominant agammaglobulinemia due to E47 transcription factor deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5414367019 Autosomal dominant agammaglobulinemia due to TCF3 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5414368012 Autosomal dominant agammaglobulinaemia due to TCF3 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5414364014 Autosomal dominant agammaglobulinaemia due to E47 transcription factor deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5414365010 Autosomal dominant agammaglobulinemia due to E47 transcription factor deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5414366011 Autosomal dominant agammaglobulinemia due to E47 transcription factor deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5414367019 Autosomal dominant agammaglobulinemia due to TCF3 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5414368012 Autosomal dominant agammaglobulinaemia due to TCF3 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 dominant agammaglobulinaemia due to E47 transcription factor deficiency Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant agammaglobulinaemia due to E47 transcription factor deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant agammaglobulinaemia due to E47 transcription factor deficiency Is a Isolated agammaglobulinemia true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant agammaglobulinaemia due to E47 transcription factor deficiency Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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