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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5405144012 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). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405145013 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). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3706398018 Combined immunodeficiency due to STK4 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3706399014 Combined immunodeficiency due to serine/threonine kinase 4 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706400019 Combined immunodeficiency due to serine/threonine kinase 4 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706401015 Combined immunodeficiency due to STK4 (serine/threonine kinase 4) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5866611000241110 déficience immunitaire combinée due à un déficit en STK4 (serine/threonine kinase 4) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5866621000241115 déficit immunitaire combine par déficit en STK4 (sérine/thréonine kinase 4) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5866631000241118 immunodéficience combinée due à un déficit en STK4 (serine/threonine kinase 4) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3436861001000112 Immundefekt, kombinierter, durch STK4-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
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). Is a Combined immunodeficiency disease true Inferred relationship Some
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). Is a Autosomal recessive hereditary disorder true Inferred relationship Some
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). Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Description inactivation indicator reference set

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