Dysraphism, cleft lip and palate, limb reduction defect syndrome   1208338004

SNOMED CT code


SNOMED code1208338004
nameDysraphism, cleft lip and palate, limb reduction defect syndrome
statusactive
date introduced2022-03-31
fully specified name(s)Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder)
synonyms
  • Dysraphism, cleft lip and palate, limb reduction defect syndrome
  • Medeira Dennis Donnai syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding siteLip structure   48477009
Associated morphologyDevelopmental failure of fusion   371520008
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteBrain structure   12738006
Associated morphologyAbsence   418560003
Pathological processPathological developmental process   308490002
attributes - group3
OccurrenceCongenital   255399007
Finding siteEntire limb   243996003
Associated morphologyAbnormal shortening   45056002
Pathological processPathological developmental process   308490002
attributes - group4
OccurrenceCongenital   255399007
Finding siteNeurenteric canal   361465000
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group5
OccurrenceCongenital   255399007
Finding sitePalatal structure   72914001
Associated morphologyDevelopmental failure of fusion   371520008
Pathological processPathological developmental process   308490002
parents
  • Structural developmental anomalies of neurenteric canal   249491000119100
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Cleft palate with cleft lip   66948001
  • Longitudinal deficiency of limb   67341007
  • Genetic disease   782964007
  • Anencephalus   89369001
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of embryonic structure   609521009
        Structural developmental anomalies of neurenteric canal   249491000119100
          Dysraphism, cleft lip and palate, limb reduction defect syndrome   1208338004

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 with limb defect as major feature   41443008
                Dysraphism, cleft lip and palate, limb reduction defect syndrome   1208338004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of head and neck region   118254002
      Head finding   406122000
        Finding of head region   298364001
          Orofacial cleft   449790007
            Cleft lip   80281008
              Cleft palate with cleft lip   66948001
                Dysraphism, cleft lip and palate, limb reduction defect syndrome   1208338004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Deformity of limb   445144002
        Longitudinal deficiency of limb   67341007
          Dysraphism, cleft lip and palate, limb reduction defect syndrome   1208338004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Dysraphism, cleft lip and palate, limb reduction defect syndrome   1208338004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Disorder of the central nervous system   23853001
        Congenital anomaly of central nervous system   128124001
          Congenital anomaly of brain   57148006
            Anencephalus   89369001
              Dysraphism, cleft lip and palate, limb reduction defect syndrome   1208338004

ancestors
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