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1179285006: Combined immunodeficiency due to moesin deficiency (disorder)


Status: current, Primitive. Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4650521011 X-linked moesin-associated immunodeficiency en Synonym Active Case sensitive SNOMED CT core
4650522016 Combined immunodeficiency due to moesin deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4650523014 MSN (moesin) related combined immunodeficiency en Synonym Active Case sensitive SNOMED CT core
4650524015 Combined immunodeficiency due to moesin deficiency en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Combined immunodeficiency due to moesin deficiency Is a X-linked recessive hereditary disease true Inferred relationship Some
Combined immunodeficiency due to moesin deficiency Is a Combined immunodeficiency disease true Inferred relationship Some
Combined immunodeficiency due to moesin deficiency Pathological process Abnormal immune process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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