Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome   715429006

SNOMED CT code


SNOMED code715429006
nameCongenital muscular dystrophy with infantile cataract and hypogonadism syndrome
statusactive
date introduced2016-07-31
fully specified name(s)Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)
synonymsCongenital muscular dystrophy with infantile cataract and hypogonadism syndrome
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteSkeletal muscle structure   127954009
Associated morphologyDystrophy   4720007
attributes - group4
OccurrenceInfancy   3658006
Associated morphologyOpacity   128305008
Finding siteLens clear   78076003
attributes - group3
Clinical courseProgressive   255314001
attributes - group1
OccurrenceCongenital   255399007
Finding siteGonadal endocrine structure   304041004
parents
  • Congenital hereditary muscular dystrophy   111501005
  • Chronic disease of genitourinary system   128290005
  • Hereditary disorder of endocrine system   363104002
  • Reproductive system hereditary disorder   363290007
  • Hereditary disorder of the visual system   363343008
  • Infantile cataract   399120006
  • Hypogonadism   48130008
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Congenital anomaly of skeletal muscle   89886004
            Congenital hereditary muscular dystrophy   111501005
              Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome   715429006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of genitourinary system   128290005
          Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome   715429006

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
            Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome   715429006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Reproductive system hereditary disorder   363290007
            Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome   715429006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome   715429006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of eye   62585004
          Cataract   193570009
            Infantile and/or juvenile cataract   342291000119102
              Infantile cataract   399120006
                Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome   715429006

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
              Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome   715429006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome   715429006

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