Thumb deformity, alopecia, pigmentation anomaly syndrome   771182002

SNOMED CT code


SNOMED code771182002
nameThumb deformity, alopecia, pigmentation anomaly syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder)
synonyms
  • Thumb deformity, alopecia, pigmentation anomaly syndrome
  • Sparse hair, short stature, skin anomalies syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyAbsence   418560003
OccurrenceCongenital   255399007
Finding siteHair structure   386045008
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyHyperpigmentation   4830009
OccurrenceCongenital   255399007
Finding siteSkin structure   39937001
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteThumb structure   76505004
Associated morphologyHypoplasia   55199003
attributes - group4
InterpretsHeight / growth measure   271603002
parents
  • Autosomal dominant hereditary disorder   11164009
  • Short stature disorder   237836003
  • Inherited cutaneous hyperpigmentation   239079007
  • Hypoplasia of thumb   253936008
  • Congenital alopecia   2965006
  • Multiple malformation syndrome with limb defect as major feature   41443008
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
              Thumb deformity, alopecia, pigmentation anomaly syndrome   771182002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Thumb deformity, alopecia, pigmentation anomaly syndrome   771182002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Inherited cutaneous hyperpigmentation   239079007
            Thumb deformity, alopecia, pigmentation anomaly syndrome   771182002

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
            Congenital malformation of thumb   394910004
              Hypoplasia of thumb   253936008
                Thumb deformity, alopecia, pigmentation anomaly syndrome   771182002

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 alopecia   2965006
                Thumb deformity, alopecia, pigmentation anomaly syndrome   771182002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with limb defect as major feature   41443008
                Thumb deformity, alopecia, pigmentation anomaly syndrome   771182002

ancestors
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