Severe neurodegenerative syndrome with lipodystrophy   773555005

SNOMED CT code


SNOMED code773555005
nameSevere neurodegenerative syndrome with lipodystrophy
statusactive
date introduced2019-01-31
fully specified name(s)Severe neurodegenerative syndrome with lipodystrophy (disorder)
synonyms
  • Severe neurodegenerative syndrome due to BSCL2 deficiency
  • Severe neurodegenerative syndrome due to BSCL2, seipin lipid droplet biogenesis associated deficiency
  • Severe neurodegenerative syndrome with lipodystrophy
attributes - group3
Clinical courseProgressive   255314001
attributes - group1
Associated morphologyDystrophy   4720007
Finding siteSubcutaneous fatty tissue   67769002
attributes - group2
Finding siteNervous system structure   25087005
Associated morphologyDegenerative abnormality   107669003
parents
  • Chronic nervous system disorder   128283000
  • Connective tissue hereditary disorder   363045008
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of nervous system   363235000
  • Genetic lipodystrophy   724841000
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic nervous system disorder   128283000
          Severe neurodegenerative syndrome with lipodystrophy   773555005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Connective tissue hereditary disorder   363045008
          Severe neurodegenerative syndrome with lipodystrophy   773555005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Severe neurodegenerative syndrome with lipodystrophy   773555005

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
            Severe neurodegenerative syndrome with lipodystrophy   773555005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic lipodystrophy   724841000
          Severe neurodegenerative syndrome with lipodystrophy   773555005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Severe neurodegenerative syndrome with lipodystrophy   773555005

ancestors
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cpt crosswalks

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