Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome   773625007

SNOMED CT code


SNOMED code773625007
nameShort stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
synonyms
  • SOFT syndrome
  • Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
  • SOFT (short stature, onychodysplasia, facial dysmorphism, hypotrichosis) syndrome
attributes - group3
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteFace structure   89545001
attributes - group4
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteHair structure   386045008
Associated morphologyHypoplasia   55199003
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
Finding siteNail unit structure   770802007
attributes - group5
InterpretsHeight / growth measure   271603002
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          Skeletal dysplasia   105986008
            Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome   773625007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome   773625007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental abnormality of nail   238715009
          Congenital anomaly of nail   35964007
            Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome   773625007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome   773625007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome   773625007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome   773625007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic disorder of nail   402775007
          Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome   773625007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Congenital anomaly of integument   38164009
          Congenital anomaly of skin   199879009
            Congenital anomaly of hair   65033000
              Congenital hypotrichia   56558005
                Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome   773625007

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
              Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome   773625007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome   773625007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome   773625007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Congenital dysplasia of limb   88631000119105
            Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome   773625007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    General finding of soft tissue   248402002
      Disorder of soft tissue   19660004
        Soft tissue lesion   239953001
          Skin lesion   95324001
            Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome   773625007

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