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1172892009: Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
4636361010 Autosomal recessive primary immunodeficiency due to RORC mutation en Synonym Active Only initial character case insensitive SNOMED CT core module
5033731012 Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
5033732017 Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation en Synonym Active Only initial character case insensitive SNOMED CT core module
5033733010 Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation en Synonym Active Only initial character case insensitive SNOMED CT core module
5033734016 Autosomal recessive MSMD (mendelian susceptibility to mycobacterial disease) due to complete RORgamma receptor mutation en Synonym Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation Pathological process Abnormal immune process true Inferred relationship Existential restriction modifier 1
Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation Is a Mendelian susceptibility to mycobacterial disease true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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