SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Disorder of head  118934005

Disorder of face  118930001

Congenital anomaly of face  398302004

Multiple malformation syndrome with facial defects as major feature  65094009

Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome   1187039001

SNOMED CT code


SNOMED code1187039001
nameCleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome
statusactive
date introduced2021-11-30
fully specified name(s)Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder)
synonyms
  • Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome
  • Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, deafness syndrome
  • Hyaluronidase 2 deficiency
attributes - group1
OccurrenceCongenital   255399007
Finding siteLip structure   48477009
Associated morphologyDevelopmental failure of fusion   371520008
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding sitePalatal structure   72914001
Associated morphologyDevelopmental failure of fusion   371520008
Pathological processPathological developmental process   308490002
parents
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Cleft palate with cleft lip   66948001
  • Genetic disease   782964007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome   1187039001

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
                Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome   1187039001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome   1187039001

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