5q31.3 microdeletion syndrome   768555009

SNOMED CT code


SNOMED code768555009
name5q31.3 microdeletion syndrome
statusactive
date introduced2018-07-31
fully specified name(s)5q31.3 microdeletion syndrome (disorder)
synonyms
  • Severe neonatal hypotonia, seizures, encephalopathy syndrome due to 5q31.3 microdeletion
  • 5q31.3 microdeletion syndrome
attributes - group2
Finding siteLong arm of chromosome   312242007
Pathological processPathological developmental process   308490002
Associated morphologyPartial monosomy   371169004
OccurrenceCongenital   255399007
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyPartial monosomy   371169004
OccurrenceCongenital   255399007
Finding siteChromosome pair 5   12399004
attributes - group3
Finding siteBrain structure   12738006
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
parents
  • Seizure disorder   128613002
  • Neurodevelopmental disorder   700364009
  • Deletion of part of long arm of chromosome 5   726373003
  • Multiple system malformation syndrome   82354003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Seizure   91175000
          Seizure disorder   128613002
            5q31.3 microdeletion syndrome   768555009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Neurodevelopmental disorder   700364009
          5q31.3 microdeletion syndrome   768555009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chromosomal disorder   409709004
        Congenital chromosomal disease   74345006
          Anomaly of chromosome pair   362984008
            Anomaly of chromosome pair 5   57361003
              Deletion of part of chromosome 5   726372008
                Deletion of part of long arm of chromosome 5   726373003
                  5q31.3 microdeletion syndrome   768555009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              5q31.3 microdeletion syndrome   768555009

ancestors
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