Night blindness, skeletal anomalies, dysmorphism syndrome   1237228009

SNOMED CT code


SNOMED code1237228009
nameNight blindness, skeletal anomalies, dysmorphism syndrome
statusactive
date introduced2022-08-31
fully specified name(s)Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
synonyms
  • Night blindness, skeletal anomalies, dysmorphism syndrome
  • Hunter Thompson Reed syndrome
attributes - group3
Clinical courseProgressive   255314001
attributes - group4
Finding siteRetinal structure   5665001
attributes - group1
OccurrenceCongenital   255399007
Finding siteSkeletal system structure   113192009
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
parents
  • Chronic disease of musculoskeletal system   128237006
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Night blindness   65194006
  • Congenital anomaly of musculoskeletal system   73573004
  • Genetic disease   782964007
  • Disorder of skeletal system   88230002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of musculoskeletal system   128237006
          Night blindness, skeletal anomalies, dysmorphism syndrome   1237228009

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
              Night blindness, skeletal anomalies, dysmorphism syndrome   1237228009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Globe finding   246915008
        Retina finding   399858007
          Retinal disorder   29555009
            Night blindness   65194006
              Night blindness, skeletal anomalies, dysmorphism syndrome   1237228009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Congenital anomaly of musculoskeletal system   73573004
          Night blindness, skeletal anomalies, dysmorphism syndrome   1237228009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Night blindness, skeletal anomalies, dysmorphism syndrome   1237228009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          Night blindness, skeletal anomalies, dysmorphism syndrome   1237228009

ancestors
sorted most to least specific
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