Frontonasal dysplasia with alopecia and genital anomaly syndrome   725029001

SNOMED CT code


SNOMED code725029001
nameFrontonasal dysplasia with alopecia and genital anomaly syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)
synonyms
  • Frontonasal dysplasia with alopecia and genital anomaly syndrome
  • Craniofrontonasal dysplasia with alopecia and hypogonadism
  • Frontonasal dysplasia with alopecia and genital abnomality
  • ALX4 (human aristaless-like 4) related frontonasal dysplasia with alopecia and genital anomaly
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteHair structure   386045008
Associated morphologyAbsence   418560003
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure of cranium   89546000
Associated morphologyDysplasia   25723000
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteGonadal endocrine structure   304041004
Associated morphologyMorphologically abnormal structure   49755003
attributes - group4
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
parents
  • Congenital alopecia   2965006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of endocrine system   363104002
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of musculoskeletal system   363212003
  • Reproductive system hereditary disorder   363290007
  • Congenital anomaly of endocrine gonad   371118004
  • Hypogonadism   48130008
  • Autosomal recessive hereditary disorder   85995004
  • Frontonasal dysplasia sequence   86610004
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
                Frontonasal dysplasia with alopecia and genital anomaly syndrome   725029001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Frontonasal dysplasia with alopecia and genital anomaly syndrome   725029001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Hereditary disorder of endocrine system   363104002
            Frontonasal dysplasia with alopecia and genital anomaly syndrome   725029001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Frontonasal dysplasia with alopecia and genital anomaly syndrome   725029001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Frontonasal dysplasia with alopecia and genital anomaly syndrome   725029001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Reproductive system hereditary disorder   363290007
            Frontonasal dysplasia with alopecia and genital anomaly syndrome   725029001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital anomaly of endocrine gland   4184009
            Congenital anomaly of endocrine gonad   371118004
              Frontonasal dysplasia with alopecia and genital anomaly syndrome   725029001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Disorder of endocrine gonad   127345001
            Hypogonadism   48130008
              Frontonasal dysplasia with alopecia and genital anomaly syndrome   725029001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Frontonasal dysplasia with alopecia and genital anomaly syndrome   725029001

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
              Frontonasal dysplasia sequence   86610004
                Frontonasal dysplasia with alopecia and genital anomaly syndrome   725029001

ancestors
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