1351648007: Autosomal recessive agammaglobulinemia due to folliculin interacting protein 1 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Cardiac finding\Heart disease\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Cardiovascular finding\Cardiac finding\Heart disease\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital agammaglobulinemia\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Congenital agammaglobulinemia\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5408254019	Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5408255018	Autosomal recessive agammaglobulinemia due to folliculin interacting protein 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5408256017	Autosomal recessive agammaglobulinemia due to folliculin interacting protein 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5408257014	Autosomal recessive agammaglobulinemia due to FNIP1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5408259012	Autosomal recessive agammaglobulinaemia due to folliculin interacting protein 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5408260019	Agammaglobulinemia due to FNIP1 defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5408261015	Agammaglobulinaemia due to FNIP1 defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start