Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome   720345008

SNOMED CT code


SNOMED code720345008
nameSevere T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
synonyms
  • Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
  • Alymphoid cystic thymic dysgenesis
  • Winged helix deficiency
  • Pignata Guarino syndrome
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • Congenital alopecia and nail dystrophy with severe functional T-cell immunodeficiency
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Finding siteNail unit structure   770802007
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteHair structure   386045008
OccurrenceCongenital   255399007
Associated morphologyAbsence   418560003
attributes - group3
Pathological processAbnormal immune process   769247005
OccurrenceCongenital   255399007
parents
  • Congenital alopecia   2965006
  • Congenital anomaly of nail   35964007
  • Autosomal recessive SCID (severe combined immunodeficiency disease)   362993009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Genetic disorder of nail   402775007
hierarchies
a selection of possible paths
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
                Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome   720345008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental abnormality of nail   238715009
          Congenital anomaly of nail   35964007
            Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome   720345008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital immunodeficiency disease   36138009
          Severe combined immunodeficiency disease   31323000
            Autosomal recessive SCID (severe combined immunodeficiency disease)   362993009
              Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome   720345008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome   720345008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome   720345008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic disorder of nail   402775007
          Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome   720345008

ancestors
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