Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome   1222710008

SNOMED CT code


SNOMED code1222710008
nameNeurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
statusactive
date introduced2022-05-31
fully specified name(s)Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder)
synonyms
  • Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
  • Au Kline syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding siteSkeletal system structure   113192009
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteBrain structure   12738006
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group3
OccurrenceCongenital   255399007
Finding siteHeart structure   80891009
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group4
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group6
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Autosomal dominant hereditary disorder   11164009
  • Congenital heart disease   13213009
  • Global developmental delay   224958001
  • Cardiovascular system hereditary disorder   363005004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of nervous system   363235000
  • Congenital anomaly of brain   57148006
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Congenital anomaly of musculoskeletal system   73573004
  • Disorder of skeletal system   88230002
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
          Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome   1222710008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome   1222710008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart disease   56265001
          Structural disorder of heart   128599005
            Congenital heart disease   13213009
              Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome   1222710008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Global developmental delay   224958001
            Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome   1222710008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome   1222710008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome   1222710008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome   1222710008

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
            Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome   1222710008

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
            Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome   1222710008

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
              Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome   1222710008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Congenital anomaly of musculoskeletal system   73573004
          Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome   1222710008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome   1222710008

ancestors
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