403836001: autosomaal recessief hyperimmunoglobuline M-syndroom (aandoening)

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\Congenital immunodeficiency disease\Congenital hypergammaglobulinaemia\Hyperimmunoglobulin M syndrome\Autosomal recessive hyperimmunoglobulin M syndrome (disorder)

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Congenital hypergammaglobulinaemia\Hyperimmunoglobulin M syndrome\Autosomal recessive hyperimmunoglobulin M syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. 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

6189711000146119 autosomaal recessief hyperimmunoglobuline M-syndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6189731000146114 autosomaal recessief hyper-IgM-syndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6189741000146118 autosomaal recessief hyperimmunoglobuline M-syndroom (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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	true	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
hyper-IgM syndroom type 2	Is a	False	Autosomal recessive hyperimmunoglobulin M syndrome (disorder)	Inferred relationship	Some
Hyperimmunoglobulin M syndrome type 5 (disorder)	Is a	True	Autosomal recessive hyperimmunoglobulin M syndrome (disorder)	Inferred relationship	Some
Hyperimmunoglobulin M syndrome type 3 (disorder)	Is a	True	Autosomal recessive hyperimmunoglobulin M syndrome (disorder)	Inferred relationship	Some

This concept is not in any reference sets