1179288008: Combined immunodeficiency due to transferrin receptor deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined immunodeficiency due to TFRC deficiency
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Combined immunodeficiency due to TFRC deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4650559015	Combined immunodeficiency due to transferrin receptor deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4650560013	Combined immunodeficiency due to transferrin receptor deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
4650567011	TFRC (transferrin receptor) related combined immunodeficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
4650568018	Combined immunodeficiency due to TFRC deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4650569014	A rare genetic combined T and B cell immunodeficiency characterised by life-threatening infections due to disrupted transferrin receptor 1 endocytosis, resulting in defective cellular iron transport and impaired T and B cell function. Patients present with early-onset chronic diarrhoea, severe recurrent infections and failure to thrive. Laboratory studies reveal hypo or agammaglobulinaemia, normal lymphocyte counts but decreased numbers of memory B cells, intermittent neutropenia and thrombocytopenia, and mild anaemia (resistant to iron supplementation) with low mean corpuscular volume.	en	Definition	Active	Case sensitive	SNOMED CT core
4650570010	A rare genetic combined T and B cell immunodeficiency characterized by life-threatening infections due to disrupted transferrin receptor 1 endocytosis, resulting in defective cellular iron transport and impaired T and B cell function. Patients present with early-onset chronic diarrhea, severe recurrent infections and failure to thrive. Laboratory studies reveal hypo or agammaglobulinemia, normal lymphocyte counts but decreased numbers of memory B cells, intermittent neutropenia and thrombocytopenia, and mild anemia (resistant to iron supplementation) with low mean corpuscular volume.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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