Multiple congenital anomalies, hypotonia, seizures syndrome   785303004

SNOMED CT code


SNOMED code785303004
nameMultiple congenital anomalies, hypotonia, seizures syndrome
statusactive
date introduced2019-07-31
fully specified name(s)Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)
synonyms
  • Congenital disorder of glycosylation due to PIGN (phosphatidylinositol glycan anchor biosynthesis class N) deficiency
  • PIGN-CDG - phosphatidylinositol glycan anchor biosynthesis class N congenital disorder of glycosylation
  • Multiple congenital anomalies, hypotonia, seizures syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteFace structure   89545001
OccurrenceCongenital   255399007
attributes - group2
OccurrenceCongenital   255399007
Finding siteBrain structure   12738006
attributes - group3
Finding siteSkeletal muscle structure   127954009
OccurrenceCongenital   255399007
attributes - group4
InterpretsMuscle tone   6918002
parents
  • Inherited metabolic disorder of nervous system   128190004
  • Seizure disorder   128613002
  • Carbohydrate-deficient glycoprotein syndrome   238049009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Poor muscle tone   398152000
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Disorder of skeletal muscle   75047002
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Multiple congenital anomalies, hypotonia, seizures syndrome   785303004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Seizure   91175000
          Seizure disorder   128613002
            Multiple congenital anomalies, hypotonia, seizures syndrome   785303004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Disorder of glycoprotein metabolism   238045003
            Carbohydrate-deficient glycoprotein syndrome   238049009
              Multiple congenital anomalies, hypotonia, seizures syndrome   785303004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Multiple congenital anomalies, hypotonia, seizures syndrome   785303004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Multiple congenital anomalies, hypotonia, seizures syndrome   785303004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Poor muscle tone   398152000
        Multiple congenital anomalies, hypotonia, seizures syndrome   785303004

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
              Multiple congenital anomalies, hypotonia, seizures syndrome   785303004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Multiple congenital anomalies, hypotonia, seizures syndrome   785303004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Multiple congenital anomalies, hypotonia, seizures syndrome   785303004

ancestors
sorted most to least specific
cpt crosswalks

Rules-based maps relating CPT® codes to and from SNOMED CT® clinical concepts.  Forward and backward mapping allows for easy transition between code sets. Map-A-Code crosswalk tool easily crosswalks multiple codes between the code sets.

Access to this feature is available in the following products:
  • CPT® to SNOMED Crosswalks

demo
request yours today
subscribe
start today
newsletter
free subscription

Thank you for choosing Find-A-Code, please Sign In to remove ads.