Congenital neutropenia, myelofibrosis, nephromegaly syndrome   775909002

SNOMED CT code


SNOMED code775909002
nameCongenital neutropenia, myelofibrosis, nephromegaly syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder)
synonyms
  • Congenital neutropenia, bone marrow fibrosis, nephromegaly syndrome
  • VPS45 deficiency
  • Congenital neutropenia, myelofibrosis, nephromegaly syndrome
attributes - group2
Associated morphologyReticulin fibrosis   75616009
OccurrenceCongenital   255399007
Finding siteBone marrow structure   14016003
attributes - group3
Finding siteEntire kidney   181414000
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyEnlargement   442021009
attributes - group1
InterpretsNeutrophil count   30630007
Has interpretationBelow reference range   281300000
attributes - group4
Pathological processAbnormal immune process   769247005
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Congenital abnormality of lower limb and pelvic girdle   253937004
          Congenital anomaly of lower trunk   363030001
            Congenital anomaly of abdomen   363024001
              Congenital anomaly of the kidney   44513007
                Congenital enlarged kidney   271387005
                  Congenital neutropenia, myelofibrosis, nephromegaly syndrome   775909002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Hereditary disorder by system   363137000
            Hereditary disorder of the urinary system   363338001
              Hereditary nephropathy   367591000119105
                Congenital neutropenia, myelofibrosis, nephromegaly syndrome   775909002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of cellular component of blood   414022008
        White blood cell disorder   54097007
          Hereditary white blood cell disorder   414395005
            Congenital neutropenia, myelofibrosis, nephromegaly syndrome   775909002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of body system   362965005
          Disorder of hematopoietic structure   414027002
            Bone marrow disorder   127035006
              Myelofibrosis   52967002
                Congenital neutropenia, myelofibrosis, nephromegaly syndrome   775909002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Viscus structure finding   406123005
        Abdominal organ finding   249561001
          Abdominal organomegaly   714254003
            Congenital neutropenia, myelofibrosis, nephromegaly syndrome   775909002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Congenital neutropenia, myelofibrosis, nephromegaly syndrome   775909002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital immunodeficiency disease   36138009
          Congenital neutropenia   89655007
            Congenital neutropenia, myelofibrosis, nephromegaly syndrome   775909002

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