771479000: Combined immunodeficiency due to serine/threonine kinase 4 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined immunodeficiency due to STK4 deficiency
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Combined immunodeficiency due to STK4 deficiency

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3706398018	Combined immunodeficiency due to STK4 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3706399014	Combined immunodeficiency due to serine/threonine kinase 4 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3706400019	Combined immunodeficiency due to serine/threonine kinase 4 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3706401015	Combined immunodeficiency due to STK4 (serine/threonine kinase 4) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3706402010	A rare genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, tricuspid and pulmonary valve insufficiency). Caused by homozygous mutation in the STK4 gene on chromosome 20q13.	en	Definition	Active	Case sensitive	SNOMED CT core
3706403017	A rare genetic combined T and B cell immunodeficiency characterised by T- and B-cell lymphopenia, hypergammaglobulinaemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicaemia. Other clinical features include autoimmune manifestations (autoimmune haemolytic anaemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, tricuspid and pulmonary valve insufficiency). Caused by homozygous mutation in the STK4 gene on chromosome 20q13.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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