TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome   1208998007

SNOMED CT code


SNOMED code1208998007
nameTRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
statusactive
date introduced2022-03-31
fully specified name(s)Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome (disorder)
synonyms
  • Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
  • TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
  • Tumour necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding siteCentral nervous system structure   21483005
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteHeart structure   80891009
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group3
OccurrenceCongenital   255399007
Finding siteDigit structure   82680008
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group4
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
parents
  • Congenital anomaly of central nervous system   128124001
  • Congenital heart disease   13213009
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Congenital anomaly of digit   403855001
  • Genetic disease   782964007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Disorder of the central nervous system   23853001
        Congenital anomaly of central nervous system   128124001
          TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome   1208998007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart disease   56265001
          Structural disorder of heart   128599005
            Congenital heart disease   13213009
              TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome   1208998007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Multiple malformation syndrome with facial-limb defects as major feature   23359005
            TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome   1208998007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Disorder of digit   128597007
          Congenital anomaly of digit   403855001
            TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome   1208998007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome   1208998007

ancestors
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