Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome   733469003

SNOMED CT code


SNOMED code733469003
nameHereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome (disorder)
synonyms
  • Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome
  • Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome
  • Westerhof Beemer Cormane syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteNervous system structure   25087005
Associated morphologyMorphologically abnormal structure   49755003
attributes - group2
Finding siteSkin structure   39937001
Associated morphologyPigment alteration   79644001
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
attributes - group3
Finding siteNervous system structure   25087005
Associated morphologyNeoplasm   108369006
OccurrenceCongenital   255399007
attributes - group4
Associated morphologyNeoplasm   108369006
OccurrenceCongenital   255399007
Finding siteSkin structure   39937001
parents
  • Congenital pigmentary skin anomalies   205564003
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of nervous system   363235000
  • Genetic disorder of skin pigmentation   724839001
  • Neurocutaneous syndrome   78572006
  • Congenital anomaly of nervous system   88425004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of pigmentation   414032001
        Disorder of skin pigmentation   46690002
          Congenital pigmentary skin anomalies   205564003
            Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome   733469003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome   733469003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome   733469003

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
            Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome   733469003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic disorder of skin pigmentation   724839001
          Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome   733469003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Neurocutaneous syndrome   78572006
          Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome   733469003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Congenital anomaly of nervous system   88425004
            Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome   733469003

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