Opitz-Frias syndrome   81771002

SNOMED CT code


SNOMED code81771002
nameOpitz-Frias syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Opitz-Frias syndrome (disorder)
synonyms
  • Opitz-Frias syndrome
  • Opitz syndrome
  • Hypertelorism-hypospadias syndrome
  • G syndrome
  • Opitz's (J.M.) syndrome
  • Congenital cleft larynx and Opitz-Frias syndrome
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyDevelopmental failure of fusion   371520008
OccurrenceCongenital   255399007
Finding siteLaryngeal structure   4596009
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteMale external urethral orifice   279478000
Associated morphologyMalposition   408737001
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteStructure of urethral aspect of penis   12923000
OccurrenceCongenital   255399007
parents
  • Penile hypospadias   204888000
  • Congenital cleft larynx   232461002
  • Developmental hereditary disorder   363070008
  • Reproductive system hereditary disorder   363290007
  • Hereditary disorder of the urinary system   363338001
  • Multiple malformation syndrome, moderate short stature, facial   77701002
  • Sex-linked hereditary disorder   82852009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of trunk structure   302292003
      Finding of abdominopelvic segment of trunk   822987005
        Finding of pelvic region of trunk   609625009
          Male genitalia finding   249230006
            Penis finding   249244000
              Glans penis finding   249250005
                Penile hypospadias   204888000
                  Opitz-Frias syndrome   81771002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of neck   118939000
        Lesion of neck   298397000
          Lesion of larynx   301210007
            Congenital cleft larynx   232461002
              Opitz-Frias syndrome   81771002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Opitz-Frias syndrome   81771002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Reproductive system hereditary disorder   363290007
            Opitz-Frias syndrome   81771002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Hereditary disorder of the urinary system   363338001
            Opitz-Frias syndrome   81771002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome, moderate short stature, facial   77701002
                Opitz-Frias syndrome   81771002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            Opitz-Frias syndrome   81771002

ancestors
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