Microbrachycephaly, ptosis, cleft lip syndrome   723403008

SNOMED CT code


SNOMED code723403008
nameMicrobrachycephaly, ptosis, cleft lip syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Microbrachycephaly, ptosis, cleft lip syndrome (disorder)
synonyms
  • Richieri Costa Guion Almeida Ramos syndrome
  • Microbrachycephaly, ptosis, cleft lip syndrome
attributes - group3
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDevelopmental failure of fusion   371520008
Finding siteLip structure   48477009
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteBone structure of cranium   89546000
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteUpper eyelid structure   38934000
Associated morphologyProlapse   29696001
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Congenital ptosis   268163008
  • Developmental hereditary disorder   363070008
  • Digestive system hereditary disorder   363080007
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of the visual system   363343008
  • Congenital anomaly of skull   51655004
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Cleft lip   80281008
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Microbrachycephaly, ptosis, cleft lip syndrome   723403008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Eyelid finding   246812007
        Disorder of eyelid   60113004
          Ptosis of eyelid   11934000
            Congenital ptosis   268163008
              Microbrachycephaly, ptosis, cleft lip syndrome   723403008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Microbrachycephaly, ptosis, cleft lip syndrome   723403008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Microbrachycephaly, ptosis, cleft lip syndrome   723403008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Microbrachycephaly, ptosis, cleft lip syndrome   723403008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Microbrachycephaly, ptosis, cleft lip syndrome   723403008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of skull   118945008
          Congenital anomaly of skull   51655004
            Microbrachycephaly, ptosis, cleft lip syndrome   723403008

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
              Microbrachycephaly, ptosis, cleft lip syndrome   723403008

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
              Microbrachycephaly, ptosis, cleft lip syndrome   723403008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Microbrachycephaly, ptosis, cleft lip syndrome   723403008

ancestors
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