403835002: X-linked hyper-immunoglobulin M syndrome (disorder)

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

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

\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\...

\Combined immunodeficiency disease\Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection (disorder)\X-linked hyper-IgM syndrome

\Hyperimmunoglobulin M syndrome (disorder)\Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection (disorder)\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked hyper-IgM syndrome	Is a	Hyperimmunoglobulin M syndrome (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked hyper-IgM syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked hyper-IgM syndrome	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked hyper-IgM syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked hyper-IgM syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked hyper-IgM syndrome	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
X-linked hyper-IgM syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked hyper-IgM syndrome	Is a	Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
5407848013	Hyper-IgM syndrome due to CD40 ligand deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407849017	Hyper-IgM syndrome type 1	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407850017	Hyper-IgM syndrome due to CD40L deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1771761011	X-linked hyper-IgM syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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	Only initial character case insensitive (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
5407848013	Hyper-IgM syndrome due to CD40 ligand deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407849017	Hyper-IgM syndrome type 1	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407850017	Hyper-IgM syndrome due to CD40L deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3426261001000110	Hyper-IgM-Syndrom, X-chromosomales	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6957471000241115	syndrome d'hyper-IgM lié à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6957471000241115	syndrome d'hyper-IgM lié à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3426261001000110	Hyper-IgM-Syndrom, X-chromosomales	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module