Microcephalus with albinism and digital anomaly syndrome   719377004

SNOMED CT code


SNOMED code719377004
nameMicrocephalus with albinism and digital anomaly syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Microcephalus with albinism and digital anomaly syndrome (disorder)
synonyms
  • Microcephalus with albinism and digital anomaly syndrome
  • Microcephaly with albinism and digital anomaly syndrome
  • Castro Gago Pombo Novo syndrome
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteDigit structure   82680008
Associated morphologyMorphologically abnormal structure   49755003
attributes - group4
Finding siteSkin structure   39937001
Pathological processPathological developmental process   308490002
Associated morphologyDecreased melanin pigmentation   37257004
OccurrenceCongenital   255399007
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyCongenital smallness   41086002
Finding siteHead structure   69536005
attributes - group5
Pathological processPathological developmental process   308490002
Associated morphologyDecreased melanin pigmentation   37257004
OccurrenceCongenital   255399007
Finding siteEye structure   81745001
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteJaw region structure   661005
attributes - group6
Associated morphologyMorphologically abnormal structure   49755003
Finding siteFace structure   89545001
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
attributes - group7
Has interpretationBelow reference range   281300000
InterpretsBirth head circumference   169876006
parents
  • Congenital microcephaly   1148758003
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Congenital anomaly of digit   403855001
  • Oculocutaneous albinism   63844009
  • Congenital anomaly of jaw   95473006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            Microcephalus with albinism and digital anomaly syndrome   719377004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Multiple malformation syndrome with facial-limb defects as major feature   23359005
            Microcephalus with albinism and digital anomaly syndrome   719377004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Disorder of digit   128597007
          Congenital anomaly of digit   403855001
            Microcephalus with albinism and digital anomaly syndrome   719377004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Oculocutaneous albinism   63844009
            Microcephalus with albinism and digital anomaly syndrome   719377004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of jaw   37156001
          Congenital anomaly of jaw   95473006
            Microcephalus with albinism and digital anomaly syndrome   719377004

ancestors
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