1351671009: Autosomal recessive agammaglobulinemia due to B cell linker deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinaemia due to BLNK deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinaemia due to BLNK deficiency
• \Disorder of immune function (disorder)\Immunodeficiency disorder\...
• \Primary immune deficiency disorder\Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinaemia due to BLNK deficiency
• \Congenital immunodeficiency disease\Congenital agammaglobulinemia\Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinaemia due to BLNK deficiency
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Congenital agammaglobulinemia\Isolated agammaglobulinaemia\Autosomal recessive agammaglobulinemia\Autosomal recessive agammaglobulinaemia due to BLNK 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
5414379019	Autosomal recessive agammaglobulinaemia due to BLNK deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5414380016	Autosomal recessive agammaglobulinemia due to BLNK deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5414381017	Autosomal recessive agammaglobulinemia due to B cell linker deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5414382012	Autosomal recessive agammaglobulinaemia due to BLNK mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5414383019	Autosomal recessive agammaglobulinaemia due to B cell linker deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5414384013	Autosomal recessive agammaglobulinemia due to B cell linker deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5414385014	Autosomal recessive agammaglobulinemia due to BLNK mutation	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

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