Nijmegen breakage syndrome-like disorder   766753005

SNOMED CT code


SNOMED code766753005
nameNijmegen breakage syndrome-like disorder
statusactive
date introduced2018-07-31
fully specified name(s)Nijmegen breakage syndrome-like disorder (disorder)
synonyms
  • Nijmegen breakage syndrome-like disorder
  • NBS-like (Nijmegen breakage syndrome-like) disorder
  • Microcephaly and chromosomal instability without immunodeficiency
  • RAD50 deficiency
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteHead structure   69536005
Associated morphologyCongenital smallness   41086002
OccurrenceCongenital   255399007
attributes - group3
InterpretsHeight / growth measure   271603002
Has interpretationBelow reference range   281300000
attributes - group4
Has interpretationBelow reference range   281300000
InterpretsBirth head circumference   169876006
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Congenital microcephaly   1148758003
  • Short stature disorder   237836003
  • Multiple malformation syndrome with facial defects as major feature   65094009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Nijmegen breakage syndrome-like disorder   766753005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            Nijmegen breakage syndrome-like disorder   766753005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Nijmegen breakage syndrome-like disorder   766753005

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
              Nijmegen breakage syndrome-like disorder   766753005

ancestors
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