Microlissencephaly micromelia syndrome   723405001

SNOMED CT code


SNOMED code723405001
nameMicrolissencephaly micromelia syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Microlissencephaly micromelia syndrome (disorder)
synonyms
  • Microlissencephaly micromelia syndrome
  • Basel Vanagaite Sirota syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteEntire limb   243996003
Associated morphologyCongenital smallness   41086002
OccurrenceCongenital   255399007
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteBrain structure   12738006
OccurrenceCongenital   255399007
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteFace structure   89545001
OccurrenceCongenital   255399007
parents
  • Lissencephaly   204036008
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of nervous system   363235000
  • Micromelia   74370006
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
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
          Disorder of neuronal migration and differentiation   253146009
            Lissencephaly   204036008
              Microlissencephaly micromelia syndrome   723405001

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
            Microlissencephaly micromelia syndrome   723405001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Microlissencephaly micromelia syndrome   723405001

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
            Microlissencephaly micromelia syndrome   723405001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Micromelia   74370006
            Microlissencephaly micromelia syndrome   723405001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Microlissencephaly micromelia syndrome   723405001

ancestors
sorted most to least specific
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