Sanjad Sakati syndrome   1197148005

SNOMED CT code


SNOMED code1197148005
nameSanjad Sakati syndrome
statusactive
date introduced2022-02-28
fully specified name(s)Sanjad Sakati syndrome (disorder)
synonyms
  • Richardson Kirk syndrome
  • Hypoparathyroidism, short stature, intellectual disability, seizures syndrome
  • Hypoparathyroidism, intellectual disability, dysmorphism syndrome
  • Sanjad Sakati syndrome
  • SSS - Sanjad Sakati syndrome
attributes - group3
InterpretsHormone secretion   60877009
Has interpretationDecreased   1250004
attributes - group4
InterpretsHead circumference   363812007
Has interpretationBelow reference range   281300000
attributes - group1
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteParathyroid structure   111002
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Microcephaly   1148757008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of endocrine system   363104002
  • Hypoparathyroidism   36976004
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Sanjad Sakati syndrome   1197148005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Sanjad Sakati syndrome   1197148005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Sanjad Sakati syndrome   1197148005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Hereditary disorder of endocrine system   363104002
            Sanjad Sakati syndrome   1197148005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Endocrine finding   106176003
      Decreased hormone secretion   42497006
        Hypoparathyroidism   36976004
          Sanjad Sakati syndrome   1197148005

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
              Sanjad Sakati syndrome   1197148005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Sanjad Sakati syndrome   1197148005

ancestors
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