LIG4 syndrome   724177005

SNOMED CT code


SNOMED code724177005
nameLIG4 syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Ligase 4 syndrome (disorder)
synonyms
  • LIG4 syndrome
  • Deoxyribonucleic acid ligase IV deficiency
  • DNA (deoxyribonucleic acid) ligase IV deficiency
  • LIG4 (ligase 4) syndrome
  • Ligase 4 syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
attributes - group3
Pathological processAbnormal immune process   769247005
attributes - group2
Finding siteBody system structure   91689009
parents
  • Autosomal recessive SCID (severe combined immunodeficiency disease)   362993009
  • Developmental hereditary disorder   363070008
  • Hereditary cancer-predisposing syndrome   699346009
  • Multiple system malformation syndrome   82354003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital immunodeficiency disease   36138009
          Severe combined immunodeficiency disease   31323000
            Autosomal recessive SCID (severe combined immunodeficiency disease)   362993009
              LIG4 syndrome   724177005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          LIG4 syndrome   724177005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Hereditary cancer-predisposing syndrome   699346009
            LIG4 syndrome   724177005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              LIG4 syndrome   724177005

ancestors
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