720853005: Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Disorder of body system\Disorder of immune structure\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3322290014	Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322291013	Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322292018	Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322293011	Cernunnos-XLF deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322294017	Severe combined immunodeficiency due to Cernunnos protein deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3322296015	NHEJ1 (non-homologous end joining factor) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402503010	Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402504016	Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterised by microcephaly, growth retardation, and T and B cell lymphopenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322290014	Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3322290014	Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322291013	Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3322291013	Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322292018	Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3322292018	Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322293011	Cernunnos-XLF deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322294017	Severe combined immunodeficiency due to Cernunnos protein deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3322296015	NHEJ1 (non-homologous end joining factor) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322295016	A rare form of combined immunodeficiency with characteristics of microcephaly, growth retardation and T and B cell lymphopenia. Patients present in childhood with growth retardation, microcephaly, urogenital and bone malformations, dysmorphic features, including ''bird-like'' facial dysmorphism, and features of combined immunodeficiency. Some patients may also present with autoimmune cytopenia. This disease is caused by mutations in the NHEJ1 (or Cernunos) gene (2q35). The resulting defect of Cernunnos/XLF, a core protein of the non-homologous end-joining (NHEJ) pathway, affects the major mechanism of DNA double-strand break repair. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4611853016	A rare form of combined immunodeficiency with characteristics of microcephaly, growth retardation and T and B cell lymphopenia. Patients present in childhood with growth retardation, microcephaly, urogenital and bone malformations, dysmorphic features, including bird-like facial dysmorphism, and features of combined immunodeficiency. Some patients may also present with autoimmune cytopenia. This disease is caused by mutations in the NHEJ1 (or Cernunos) gene (2q35). The resulting defect of Cernunnos/XLF, a core protein of the non-homologous end-joining (NHEJ) pathway, affects the major mechanism of DNA double-strand break repair. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402503010	Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402504016	Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterised by microcephaly, growth retardation, and T and B cell lymphopenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3408971001000118	Cernunnos/XLF-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3408971001000118	Cernunnos/XLF-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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