Chromosome Xp11.3 microdeletion syndrome   719808002

SNOMED CT code


SNOMED code719808002
nameChromosome Xp11.3 microdeletion syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Chromosome Xp11.3 microdeletion syndrome (disorder)
synonyms
  • Chromosome Xp11.3 microdeletion syndrome
  • Aldred syndrome
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteShort arm of chromosome   278145009
Associated morphologyPartial monosomy   371169004
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyPartial monosomy   371169004
OccurrenceCongenital   255399007
Finding siteSex chromosome X   72837006
attributes - group3
Finding siteRetinal structure   5665001
Associated morphologyDystrophy   4720007
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
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
          Chromosome Xp11.3 microdeletion syndrome   719808002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chromosomal disorder   409709004
        Congenital chromosomal disease   74345006
          Anomaly of chromosome pair   362984008
            Anomaly of sex chromosome   95462004
              Anomaly of chromosome X   111312006
                Chromosome Xp11.3 microdeletion syndrome   719808002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked recessive hereditary disease   1162976004
                Chromosome Xp11.3 microdeletion syndrome   719808002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked retinitis pigmentosa   232054005
                Chromosome Xp11.3 microdeletion syndrome   719808002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Chromosome Xp11.3 microdeletion syndrome   719808002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Chromosome Xp11.3 microdeletion syndrome   719808002

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