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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\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 ionizing radiation syndrome (disorder)
• \affection de la tête\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 ionizing radiation syndrome (disorder)
• \affection de la tête\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 ionizing radiation syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\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 ionizing radiation syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\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 ionizing radiation syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (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 ionizing radiation syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\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 ionizing radiation syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of immune structure (disorder)\Severe combined immunodeficiency with low T- and B-cell numbers\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\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 ionizing radiation syndrome (disorder)
• \Disease\affection de la tête\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 ionizing radiation syndrome (disorder)
• \Disease\affection de la tête\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 ionizing radiation syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
• \Disease\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 ionizing radiation syndrome (disorder)
• \Disease\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
• \Disease\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 ionizing radiation syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
• \Disease\trouble du développement\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 ionizing radiation syndrome (disorder)

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
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

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

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US English

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