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1179285006: Combined immunodeficiency due to moesin deficiency (disorder)


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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Combined immunodeficiency due to moesin deficiency (disorder) est un(e) (attribut) X-linked recessive hereditary disease true Inferred relationship Some
Combined immunodeficiency due to moesin deficiency (disorder) est un(e) (attribut) Combined immunodeficiency disease true Inferred relationship Some
Combined immunodeficiency due to moesin deficiency (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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