3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency 238033007

SNOMED CT code

SNOMED code

238033007

name

3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency

status

active

date introduced

2002-01-31

fully specified name(s)

3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (disorder)

synonyms

3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
Congenital bile acid synthesis defect type 1

attributes - group2

Occurrence

Congenital 255399007

attributes - group1

Finding site

Liver structure 10200004

parents

Synthetic defect of bile acids 235915002
Disorder of cholesterol catabolism 238032002
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Metabolic disease 75934005
Metabolic and genetic disorder affecting the liver 235903001
Synthetic defect of bile acids 235915002
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency 238033007

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Metabolic disease 75934005
Disorder of lipoprotein AND/OR lipid metabolism 48286001
Disorder of lipid storage and metabolism 238017009
Disorder of cholesterol catabolism 238032002
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency 238033007

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency 238033007

ancestors

sorted most to least specific

Synthetic defect of bile acids 235915002
Disorder of cholesterol catabolism 238032002
Autosomal recessive hereditary disorder 85995004
Metabolic and genetic disorder affecting the liver 235903001
Disorder of cholesterol metabolism 123963007
Autosomal hereditary disorder 1899006
Digestive system hereditary disorder 363080007
Inborn error of metabolism 86095007
Disorder of lipid storage and metabolism 238017009
Disease of liver 235856003
Disorder of lipid metabolism 267431006
Hereditary disorder by system 363137000
Hereditary metabolic disease 1821000146108
Congenital disease 66091009
Disorder of liver and/or biliary tract 1290917001
Disorder of lipoprotein AND/OR lipid metabolism 48286001
Hereditary disease 32895009
Liver finding 249565005
Disorder of abdomen 118948005
Metabolic disease 75934005
Genetic disease 782964007
Abdominal organ finding 249561001
Disorder of digestive organ 76712006
Finding of abdomen 609624008
Viscus structure finding 406123005
Disorder of digestive system 53619000
Disorder of abdominopelvic segment of trunk 822988000
Finding of abdominopelvic segment of trunk 822987005
Disorder of body system 362965005
Disorder of trunk 128121009
Digestive system finding 386617003
Finding of trunk structure 302292003
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Metabolic disease 75934005

Metabolic and genetic disorder affecting the liver 235903001

Synthetic defect of bile acids 235915002

3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency 238033007

SNOMED CT code