Schinzel phocomelia syndrome   715522000

SNOMED CT code


SNOMED code715522000
nameSchinzel phocomelia syndrome
statusactive
date introduced2016-07-31
fully specified name(s)Phocomelia Schinzel type (disorder)
synonyms
  • Phocomelia Schinzel type
  • Al Awadi-Raas-Rothschild syndrome
  • Schinzel phocomelia syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Finding sitePelvic structure   12921003
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyAbsence   418560003
OccurrenceCongenital   255399007
Finding siteExtremity part   120573002
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Partial congenital absence of limb   60220000
            Phocomelia   22841008
              Schinzel phocomelia syndrome   715522000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Schinzel phocomelia syndrome   715522000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of trunk structure   302292003
      Disorder of trunk   128121009
        Congenital anomaly of trunk   78626001
          Congenital anomaly of lower trunk   363030001
            Congenital anomaly of the pelvis   47583008
              Schinzel phocomelia syndrome   715522000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Schinzel phocomelia syndrome   715522000

ancestors
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