SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Congenital disease  66091009

Disorder of lysosomal enzyme  23585005

Lipid storage disease  10741005

Triglyceride storage disease with ichthyosis   19604005

SNOMED CT code


SNOMED code19604005
nameTriglyceride storage disease with ichthyosis
statusactive
date introduced2002-01-31
fully specified name(s)Triglyceride storage disease with ichthyosis (disorder)
synonyms
  • Triglyceride storage disease with ichthyosis
  • Chanarin-Dorfman disease
  • Chanarin-Miranda syndrome
  • Ichthyosiform erythroderma with leukocyte vacuolation
  • Ichthyotic neutral lipid storage disease
  • Neutral lipid storage disease
  • Lipid storage myopathy AND congenital ichthyosis
  • Ichthyosiform erythroderma with leucocyte vacuolation
attributes - group2
OccurrenceCongenital   255399007
attributes - group1
Finding siteSkeletal muscle structure   127954009
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Disorder of lysosomal enzyme   23585005
          Lipid storage disease   10741005
            Triglyceride storage disease with ichthyosis   19604005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Triglyceride storage disease with ichthyosis   19604005

ancestors
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