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1297036006: Autosomal recessive agammaglobulinemia (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
5289339018 Autosomal recessive agammaglobulinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5289340016 Autosomal recessive agammaglobulinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5289341017 Autosomal recessive agammaglobulinemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5289339018 Autosomal recessive agammaglobulinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5289340016 Autosomal recessive agammaglobulinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5289341017 Autosomal recessive agammaglobulinemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5289345014 A rare form of agammaglobulinemia, a primary immunodeficiency disease, characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea. Caused by homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5289346010 A rare form of agammaglobulinaemia, a primary immunodeficiency disease, characterised by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhoea. Caused by homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

9 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive agammaglobulinemia Is a Isolated agammaglobulinemia true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive agammaglobulinemia Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive agammaglobulinemia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive agammaglobulinemia Finding site Structure of immune system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive agammaglobulinemia Pathological process (attribute) Abnormal immune process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive agammaglobulinemia 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
Autosomal recessive agammaglobulinemia due to E47 transcription factor deficiency (disorder) Is a True Autosomal recessive agammaglobulinemia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive agammaglobulinemia due to SLC39A7 deficiency Is a True Autosomal recessive agammaglobulinemia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive agammaglobulinemia due to p110 delta deficiency (disorder) Is a True Autosomal recessive agammaglobulinemia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive agammaglobulinemia due to BLNK deficiency Is a True Autosomal recessive agammaglobulinemia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive agammaglobulinemia due to p85 deficiency Is a True Autosomal recessive agammaglobulinemia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive agammaglobulinaemia due to lambda 5 deficiency Is a True Autosomal recessive agammaglobulinemia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive agammaglobulinemia due to immunoglobulin heavy chain mu constant region deficiency (disorder) Is a True Autosomal recessive agammaglobulinemia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive agammaglobulinemia due to immunoglobulin beta deficiency (disorder) Is a True Autosomal recessive agammaglobulinemia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive agammaglobulinaemia due to immunoglobulin alpha deficiency Is a True Autosomal recessive agammaglobulinemia Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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