X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome   765471005

SNOMED CT code


SNOMED code765471005
nameX-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
statusactive
date introduced2018-07-31
fully specified name(s)X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome (disorder)
synonyms
  • X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
  • Young Hughes syndrome
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteGonadal endocrine structure   304041004
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyHyperkeratosis   26996000
Finding siteEntire skin   181469002
OccurrenceCongenital   255399007
attributes - group3
Has interpretationAbnormal   263654008
InterpretsKeratinization   44138005
attributes - group4
InterpretsHeight / growth measure   271603002
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
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
          X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome   765471005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked recessive hereditary disease   1162976004
                X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome   765471005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Skin finding   106076001
        Rough skin   816995008
          Congenital ichthyosis of skin   13059002
            X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome   765471005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome   765471005

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
            X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome   765471005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Reproductive system hereditary disorder   363290007
            X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome   765471005

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
              Primary hypogonadism   370999003
                X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome   765471005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome   765471005

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