Menkes kinky-hair syndrome   59178007

SNOMED CT code


SNOMED code59178007
nameMenkes kinky-hair syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Menkes kinky-hair syndrome (disorder)
synonyms
  • Steely hair syndrome
  • Menkes syndrome
  • Kinky hair disease
  • Congenital hypocupraemia
  • MK - Menkes syndrome
  • MNK - Menkes syndrome
  • Steely hair disease
  • Menke's kinky hair syndrome
  • Menkes kinky-hair syndrome
  • Menkes disease
  • Congenital hypocupremia
  • X-linked copper deficiency
  • Copper transport disease
  • Trichopoliodystrophy
attributes - group1
Finding siteHair structure   386045008
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
attributes - group3
InterpretsBone density scan   312681000
Has interpretationBelow reference range   281300000
attributes - group4
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
attributes - group2
Associated morphologyDegenerative abnormality   107669003
Finding siteNervous system structure   25087005
parents
  • X-linked recessive hereditary disease   1162976004
  • System disorder of the nervous system   230226000
  • Collagen and elastic tissue disorders affecting skin   238846003
  • Dysplasia with decreased bone density   254104009
  • Disorder of hair   279425004
  • Degenerative disorder   362975008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of nervous system   363235000
  • Metabolic bone disease   50279003
  • Disorder of copper metabolism   79886009
hierarchies
a selection of possible paths
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
                Menkes kinky-hair syndrome   59178007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          System disorder of the nervous system   230226000
            Menkes kinky-hair syndrome   59178007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Skin finding   106076001
        Disorder of skin   95320005
          Collagen and elastic tissue disorders affecting skin   238846003
            Menkes kinky-hair syndrome   59178007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Procedure related finding   127325009
      Bone density finding   385342005
        Bone density below reference range   449781000
          Dysplasia with decreased bone density   254104009
            Menkes kinky-hair syndrome   59178007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Skin finding   106076001
        Hair finding   247522004
          Disorder of hair   279425004
            Menkes kinky-hair syndrome   59178007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Menkes kinky-hair syndrome   59178007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Menkes kinky-hair syndrome   59178007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Menkes kinky-hair syndrome   59178007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Menkes kinky-hair syndrome   59178007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Menkes kinky-hair syndrome   59178007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Metabolic bone disease   50279003
          Menkes kinky-hair syndrome   59178007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of mineral metabolism   45744005
          Disorder of copper metabolism   79886009
            Menkes kinky-hair syndrome   59178007

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