403835002: hyper-IgM-syndroom type 1 (aandoening)

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

\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked hyper-IgM syndrome

\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital hypergammaglobulinaemia\Hyperimmunoglobulin M syndrome\X-linked hyper-IgM syndrome

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Congenital hypergammaglobulinaemia\Hyperimmunoglobulin M syndrome\X-linked hyper-IgM syndrome

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

1782839018 X-linked hyper-IgM syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1787887015 X-linked with hyper-IgM immunodeficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2970489019 X-linked hyper-immunoglobulin M syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2970494019 X-linked hyper-immunoglobulin M syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

389411000146117 X-gebonden hyper-IgM-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

389421000146110 hyper-IgM-syndroom type 1 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

389431000146112 hyper-IgM-syndroom type 1 (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
X-linked hyper-IgM syndrome	Is a	Hyperimmunoglobulin M syndrome	true	Inferred relationship	Some
X-linked hyper-IgM syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked hyper-IgM syndrome	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
X-linked hyper-IgM syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
X-linked hyper-IgM syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked hyper-IgM syndrome	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2
X-linked hyper-IgM syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked hyper-immunoglobulin M syndrome type 4 (disorder)	Is a	True	X-linked hyper-IgM syndrome	Inferred relationship	Some

This concept is not in any reference sets