SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Congenital disease  66091009

Inborn error of metabolism  86095007

Disorder of glycoprotein metabolism  238045003

NGLY1-congenital disorder of deglycosylation   768846004

SNOMED CT code


SNOMED code768846004
nameNGLY1-congenital disorder of deglycosylation
statusactive
date introduced2018-07-31
fully specified name(s)N-glycanase 1 congenital disorder of deglycosylation (disorder)
synonyms
  • NGLY1-congenital disorder of deglycosylation
  • Alacrimia, choreoathetosis, liver dysfunction syndrome
  • Deficiency of N-glycanase 1
  • N-glycanase 1 congenital disorder of deglycosylation
attributes - group1
OccurrenceCongenital   255399007
parents
  • Disorder of glycoprotein metabolism   238045003
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Disorder of glycoprotein metabolism   238045003
            NGLY1-congenital disorder of deglycosylation   768846004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              NGLY1-congenital disorder of deglycosylation   768846004

ancestors
sorted most to least specific
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