1179285006: Combined immunodeficiency due to moesin deficiency (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\A rare, combined T and B cell immunodeficiency characterised by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinaemia, poor immune response to vaccine antigens, and fluctuating neutropenia.
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\A rare, combined T and B cell immunodeficiency characterised by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinaemia, poor immune response to vaccine antigens, and fluctuating neutropenia.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4650521011	X-linked moesin-associated immunodeficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650522016	Combined immunodeficiency due to moesin deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4650523014	MSN (moesin) related combined immunodeficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650524015	Combined immunodeficiency due to moesin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399474016	A rare, combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399475015	A rare, combined T and B cell immunodeficiency characterised by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinaemia, poor immune response to vaccine antigens, and fluctuating neutropenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650521011	X-linked moesin-associated immunodeficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650522016	Combined immunodeficiency due to moesin deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4650523014	MSN (moesin) related combined immunodeficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650524015	Combined immunodeficiency due to moesin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4650528017	A rare combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens and fluctuating neutropenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650529013	A rare combined T and B cell immunodeficiency characterised by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinaemia, poor immune response to vaccine antigens and fluctuating neutropenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399474016	A rare, combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399475015	A rare, combined T and B cell immunodeficiency characterised by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinaemia, poor immune response to vaccine antigens, and fluctuating neutropenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3412801001000118	Kombinierter Immundefekt durch Moesin-Defizienz	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3412801001000118	Kombinierter Immundefekt durch Moesin-Defizienz	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start