Microcephalic primordial dwarfism, insulin resistance syndrome   1220596009

SNOMED CT code


SNOMED code1220596009
nameMicrocephalic primordial dwarfism, insulin resistance syndrome
statusactive
date introduced2022-05-31
fully specified name(s)Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
synonymsMicrocephalic primordial dwarfism, insulin resistance syndrome
attributes - group4
Finding siteGonadal endocrine structure   304041004
attributes - group2
InterpretsBody height   1153637007
Has interpretationBelow reference range   281300000
attributes - group3
InterpretsBirth head circumference   169876006
Has interpretationBelow reference range   281300000
attributes - group1
OccurrenceCongenital   255399007
Finding siteHead structure   69536005
Associated morphologyCongenital smallness   41086002
Pathological processPathological developmental process   308490002
parents
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
            Microcephalic primordial dwarfism, insulin resistance syndrome   1220596009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Primordial dwarfism   237837007
            Microcephalic primordial dwarfism, insulin resistance syndrome   1220596009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Microcephalic primordial dwarfism, insulin resistance syndrome   1220596009

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
            Microcephalic primordial dwarfism, insulin resistance syndrome   1220596009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Reproductive system hereditary disorder   363290007
            Microcephalic primordial dwarfism, insulin resistance syndrome   1220596009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Disorder of endocrine gonad   127345001
            Hypogonadism   48130008
              Microcephalic primordial dwarfism, insulin resistance syndrome   1220596009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Insulin resistance   763325000
            Microcephalic primordial dwarfism, insulin resistance syndrome   1220596009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Microcephalic primordial dwarfism, insulin resistance syndrome   1220596009

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