403836001: Autosomal recessive hyperimmunoglobulin M syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hyperimmunoglobulin M syndrome (disorder)

\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Hyperimmunoglobulin M syndrome\Autosomal recessive hyperimmunoglobulin M syndrome (disorder)

Status: current, 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

1782840016 Autosomal recessive hyper-IgM syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2968614012 Autosomal recessive hyper- immunoglobulin M syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3424904019 Autosomal recessive hyperimmunoglobulin M syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3424905018 Autosomal recessive hyperimmunoglobulin M syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive hyperimmunoglobulin M syndrome (disorder)	Is a	Hyperimmunoglobulin M syndrome	true	Inferred relationship	Some
Autosomal recessive hyperimmunoglobulin M syndrome (disorder)	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Autosomal recessive hyperimmunoglobulin M syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Autosomal recessive hyperimmunoglobulin M syndrome (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Autosomal recessive hyperimmunoglobulin M syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive hyperimmunoglobulin M syndrome (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive hyperimmunoglobulin M syndrome due to uracil DNA glycosylase deficiency (disorder)	Is a	True	Autosomal recessive hyperimmunoglobulin M syndrome (disorder)	Inferred relationship	Some
Autosomal recessive hyperimmunoglobulin M syndrome due to activation induced cytidine deaminase deficiency (disorder)	Is a	True	Autosomal recessive hyperimmunoglobulin M syndrome (disorder)	Inferred relationship	Some
Autosomal recessive hyperimmunoglobulin M syndrome due to APRIL deficiency	Is a	True	Autosomal recessive hyperimmunoglobulin M syndrome (disorder)	Inferred relationship	Some
Autosomal recessive hyperimmunoglobulin M syndrome due to CTNNBL1 deficiency	Is a	True	Autosomal recessive hyperimmunoglobulin M syndrome (disorder)	Inferred relationship	Some
Autosomal recessive hyperimmunoglobulin M syndrome due to MSH6 deficiency	Is a	True	Autosomal recessive hyperimmunoglobulin M syndrome (disorder)	Inferred relationship	Some
Autosomal recessive hyperimmunoglobulin M syndrome due to INO80 complex ATPase subunit deficiency (disorder)	Is a	True	Autosomal recessive hyperimmunoglobulin M syndrome (disorder)	Inferred relationship	Some

This concept is not in any reference sets