Puerto Rican infant hypotonia syndrome   721887007

SNOMED CT code


SNOMED code721887007
namePuerto Rican infant hypotonia syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Puerto Rican infant hypotonia syndrome (disorder)
synonyms
  • Dysharmonic skeletal maturation and muscular fiber disproportion syndrome
  • Dysharmonic skeletal maturation and muscular fibre disproportion syndrome
  • Puerto Rican infant hypotonia syndrome
  • Qazi Markouizos syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteSkeletal muscle structure   127954009
attributes - group3
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteBone structure   272673000
attributes - group4
InterpretsMuscle tone   6918002
parents
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Poor muscle tone   398152000
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Congenital anomaly of skeletal bone   8447006
  • Autosomal recessive hereditary disorder   85995004
  • Congenital anomaly of skeletal muscle   89886004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Puerto Rican infant hypotonia syndrome   721887007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Puerto Rican infant hypotonia syndrome   721887007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Poor muscle tone   398152000
        Puerto Rican infant hypotonia syndrome   721887007

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
              Puerto Rican infant hypotonia syndrome   721887007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Puerto Rican infant hypotonia syndrome   721887007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Puerto Rican infant hypotonia syndrome   721887007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Congenital anomaly of skeletal muscle   89886004
            Puerto Rican infant hypotonia syndrome   721887007

ancestors
sorted most to least specific
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