724177005: Ligase 4 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary neoplastic syndrome\LIG4 syndrome
• \Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\LIG4 syndrome
• \Developmental hereditary disorder\LIG4 syndrome
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive SCID (severe combined immunodeficiency disease)\LIG4 syndrome
• \Disorder of immune function\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\LIG4 syndrome
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\LIG4 syndrome
• \Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\LIG4 syndrome
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\LIG4 syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\LIG4 syndrome
• \Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\LIG4 syndrome
• \Developmental disorder\Developmental hereditary disorder\LIG4 syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\LIG4 syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3431550015	LIG4 syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3431551016	Deoxyribonucleic acid ligase IV deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3431552011	DNA (deoxyribonucleic acid) ligase IV deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
3431553018	LIG4 (ligase 4) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3431554012	Ligase 4 syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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