Temtamy syndrome   719947004

SNOMED CT code


SNOMED code719947004
nameTemtamy syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder)
synonyms
  • Temtamy syndrome
  • Temtamy Shalash syndrome
  • Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure of face   91397008
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteBone structure of cranium   89546000
OccurrenceCongenital   255399007
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteEye structure   81745001
Associated morphologyDevelopmental failure of fusion   371520008
attributes - group4
Pathological processPathological developmental process   308490002
Associated morphologyAplasia   45486003
Finding siteCorpus callosum structure   88442005
OccurrenceCongenital   255399007
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Aplasia of corpus callosum   204044008
  • Congenital anomaly of face bones   32003007
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of nervous system   363235000
  • Hereditary disorder of the visual system   363343008
  • Congenital anomaly of skull   51655004
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Autosomal recessive hereditary disorder   85995004
  • Coloboma of eye   93390002
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
          Temtamy syndrome   719947004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of head and neck region   118254002
      Head finding   406122000
        Finding of head region   298364001
          Hemianencephaly   85641006
            Aplasia of corpus callosum   204044008
              Temtamy syndrome   719947004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Facial bone finding   248398006
          Disorder of facial bone   128225009
            Congenital anomaly of face bones   32003007
              Temtamy syndrome   719947004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Temtamy syndrome   719947004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Temtamy syndrome   719947004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Temtamy syndrome   719947004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Temtamy syndrome   719947004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of skull   118945008
          Congenital anomaly of skull   51655004
            Temtamy syndrome   719947004

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
              Temtamy syndrome   719947004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Temtamy syndrome   719947004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Congenital anomaly of visual system   127329003
          Congenital anomaly of eye   19416009
            Coloboma of eye   93390002
              Temtamy syndrome   719947004

ancestors
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