Schmitt Gillenwater Kelly syndrome   716092007

SNOMED CT code


SNOMED code716092007
nameSchmitt Gillenwater Kelly syndrome
statusactive
date introduced2016-07-31
fully specified name(s)Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder)
synonyms
  • Schmitt Gillenwater Kelly syndrome
  • Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome
attributes - group4
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyMalposition   408737001
Finding siteStructure of urethral meatus   87528003
attributes - group5
Finding siteBone structure of phalanx of thumb   2550002
Pathological processPathological developmental process   308490002
Associated morphologySupernumerary structure   91431006
OccurrenceCongenital   255399007
attributes - group1
Finding siteStructure of maxillary teeth   68137000
attributes - group2
Has interpretationIncreased   35105006
InterpretsSpacing of teeth   734008008
attributes - group3
Associated morphologyHypoplasia   55199003
OccurrenceCongenital   255399007
Finding siteBone structure of radius   62413002
Pathological processPathological developmental process   308490002
parents
  • Autosomal dominant hereditary disorder   11164009
  • Hereditary disorder of tooth   1148766007
  • Triphalangeal thumb   205308004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of the urinary system   363338001
  • Hypospadias   416010008
  • Generalized spacing of maxillary teeth   734012002
  • Congenital hypoplasia of radius   93288001
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Schmitt Gillenwater Kelly syndrome   716092007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Hereditary disorder of tooth   1148766007
            Schmitt Gillenwater Kelly syndrome   716092007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Finding of musculoskeletal structure of digit of hand   299055007
        Finding of musculoskeletal structure of thumb   299128000
          Triphalangeal thumb   205308004
            Schmitt Gillenwater Kelly syndrome   716092007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Schmitt Gillenwater Kelly syndrome   716092007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Schmitt Gillenwater Kelly syndrome   716092007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Hereditary disorder of the urinary system   363338001
            Schmitt Gillenwater Kelly syndrome   716092007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of the genitourinary system   42030000
          Disorder of the urinary system   128606002
            Congenital malformation of the urinary system   253859003
              Congenital anomaly of the urinary tract proper   118642009
                Congenital anomaly of urethra   13806003
                  Hypospadias   416010008
                    Schmitt Gillenwater Kelly syndrome   716092007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Finding of mouth region   423066003
        Oral cavity finding   116337000
          Tooth finding   278544002
            Finding of dentition   300233000
              Diastema of teeth   734009000
                Generalized spacing of maxillary teeth   734012002
                  Schmitt Gillenwater Kelly syndrome   716092007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of bone of upper limb   298756009
          Congenital anomaly of radius   123559005
            Congenital hypoplasia of radius   93288001
              Schmitt Gillenwater Kelly syndrome   716092007

ancestors
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