Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome   702816000

SNOMED CT code


SNOMED code702816000
nameMethyl-cytosine phosphate guanine binding protein-2 duplication syndrome
statusactive
date introduced2014-07-31
fully specified name(s)Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder)
synonyms
  • Methyl-CpG (cytosine phosphate guanine) binding protein-2 duplication syndrome
  • MECP2 duplication syndrome
  • Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
  • Lubs X-linked mental retardation syndrome
  • Lubs X-linked intellectual disability syndrome
  • Proximal Xq28 duplication syndrome
attributes - group1
OccurrenceCongenital   255399007
Associated morphologyPartial trisomy   133849008
Finding siteLong arm of chromosome   312242007
attributes - group3
Associated morphologyPartial trisomy   133849008
OccurrenceCongenital   255399007
Finding siteSex chromosome X   72837006
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chromosomal disorder   409709004
        Congenital chromosomal disease   74345006
          Anomaly of chromosome pair   362984008
            Anomaly of sex chromosome   95462004
              Anomaly of chromosome X   111312006
                Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome   702816000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked recessive hereditary disease   1162976004
                Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome   702816000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              MECP2 related disorder   1296869000
                Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome   702816000

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