Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome   720853005

SNOMED CT code


SNOMED code720853005
nameSevere combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
synonyms
  • Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome
  • Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
  • Cernunnos-XLF deficiency
  • Severe combined immunodeficiency due to Cernunnos protein deficiency
  • NHEJ1 (non-homologous end joining factor) syndrome
attributes - group2
Finding siteImmune system structure   116003000
Pathological processPathological developmental process   308490002
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Pathological processPathological developmental process   308490002
attributes - group3
Pathological processAbnormal immune process   769247005
parents
  • Severe combined immunodeficiency with low T- and B-cell numbers   190997006
  • Autosomal recessive SCID (severe combined immunodeficiency disease)   362993009
  • Developmental hereditary disorder   363070008
  • Multiple malformation syndrome with facial defects as major feature   65094009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of immune structure   414030009
          Severe combined immunodeficiency with low T- and B-cell numbers   190997006
            Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome   720853005

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
              Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome   720853005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome   720853005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome   720853005

ancestors
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