724177005: Ligase 4 syndrome (disorder)

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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3431549015	Ligase 4 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3431550015	LIG4 syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3431551016	Deoxyribonucleic acid ligase IV deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3431552011	DNA (deoxyribonucleic acid) ligase IV deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3431553018	LIG4 (ligase 4) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3431554012	Ligase 4 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3431555013	A hereditary disorder associated with impaired DNA double-strand break repair mechanisms with characteristics of microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency. Caused by mutations in the LIG4 gene (13q22-q34). The resulting defect of DNA ligase IV, a component of the classical 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

This concept is not in any reference sets

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