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ligase-4-syndroom (aandoening)
ligase-4-syndroom
DNA-ligase-IV-deficiƫntie
LIG4-syndroom
LIG4 syndrome
Deoxyribonucleic acid ligase IV deficiency
DNA (deoxyribonucleic acid) ligase IV deficiency
LIG4 (ligase 4) syndrome
Ligase 4 syndrome
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.
Id724177005
StatusPrimitive
Associated morphologymorfologische afwijking
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Pathological processafwijkend immuunproces
referentieset met complexe 'mapping' naar ICD-10
TargetD81.1
RuleTRUE
AdviceALWAYS D81.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified