Noonan syndrome-like disorder with juvenile myelomonocytic leukemia   783143001

SNOMED CT code


SNOMED code783143001
nameNoonan syndrome-like disorder with juvenile myelomonocytic leukemia
statusactive
date introduced2019-07-31
fully specified name(s)Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (disorder)
synonyms
  • Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia
  • Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
  • CBL (Cbl proto-oncogene) syndrome
attributes - group1
Finding siteFace structure   89545001
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
parents
  • Autosomal dominant hereditary disorder   11164009
  • Developmental hereditary disorder   363070008
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Hereditary cancer-predisposing syndrome   699346009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Noonan syndrome-like disorder with juvenile myelomonocytic leukemia   783143001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Noonan syndrome-like disorder with juvenile myelomonocytic leukemia   783143001

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
              Noonan syndrome-like disorder with juvenile myelomonocytic leukemia   783143001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Hereditary cancer-predisposing syndrome   699346009
            Noonan syndrome-like disorder with juvenile myelomonocytic leukemia   783143001

ancestors
sorted most to least specific
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