Alopecia, progressive neurological defect, endocrinopathy syndrome   770941005

SNOMED CT code


SNOMED code770941005
nameAlopecia, progressive neurological defect, endocrinopathy syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
synonyms
  • ANE syndrome
  • ANE (alopecia, progressive neurological defect, endocrinopathy) syndrome
  • Alopecia, progressive neurological defect, endocrinopathy syndrome
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteStructure of distal part of pituitary   52618001
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteGonadal endocrine structure   304041004
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyAbsence   418560003
OccurrenceCongenital   255399007
Finding siteHair structure   386045008
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Congenital alopecia   2965006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of endocrine system   363104002
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of nervous system   363235000
  • Reproductive system hereditary disorder   363290007
  • Congenital hypogonadotropic hypogonadism   722944006
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Alopecia, progressive neurological defect, endocrinopathy syndrome   770941005

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
                Alopecia, progressive neurological defect, endocrinopathy syndrome   770941005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Alopecia, progressive neurological defect, endocrinopathy syndrome   770941005

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
            Alopecia, progressive neurological defect, endocrinopathy syndrome   770941005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Alopecia, progressive neurological defect, endocrinopathy syndrome   770941005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Alopecia, progressive neurological defect, endocrinopathy syndrome   770941005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Reproductive system hereditary disorder   363290007
            Alopecia, progressive neurological defect, endocrinopathy syndrome   770941005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hypogonadotropic hypogonadism   722944006
          Alopecia, progressive neurological defect, endocrinopathy syndrome   770941005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Alopecia, progressive neurological defect, endocrinopathy syndrome   770941005

ancestors
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