724177005: Ligase 4 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary cancer-predisposing syndrome\Ligase 4 syndrome
• \Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease\Ligase 4 syndrome
• \Developmental hereditary disorder\Ligase 4 syndrome
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive severe combined immunodeficiency disease\Ligase 4 syndrome
• \Disorder of immune function\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease\Ligase 4 syndrome
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease\Ligase 4 syndrome
• \Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease\Ligase 4 syndrome
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease\Ligase 4 syndrome
• \Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Ligase 4 syndrome
• \Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease\Ligase 4 syndrome
• \Developmental disorder\Developmental hereditary disorder\Ligase 4 syndrome
• \Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Ligase 4 syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3431549015	Ligase 4 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3431550015	LIG4 syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3431551016	Deoxyribonucleic acid ligase IV deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3431552011	DNA (deoxyribonucleic acid) ligase IV deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3431553018	LIG4 (ligase 4) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3431554012	Ligase 4 syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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