Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria 713401006

SNOMED CT code

SNOMED code

713401006

name

Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria

status

active

date introduced

2016-01-31

fully specified name(s)

Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder)

synonyms

Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
D,L-2-hydroxyglutaric acidaemia
D,L-2-hydroxyglutaric acidemia
Combined D-2-hydroxyglutaric acidaemia and L-2-hydroxyglutaric acidaemia

attributes - group1

Occurrence

Congenital 255399007

Finding site

Central nervous system structure 21483005

attributes - group2

Occurrence

Congenital 255399007

Finding site

Endocrine structure 113331007

parents

2-hydroxyglutaric aciduria 698870008
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
2-hydroxyglutaric aciduria 698870008
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria 713401006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria 713401006

ancestors

sorted most to least specific

2-hydroxyglutaric aciduria 698870008
Autosomal recessive hereditary disorder 85995004
Disorder of neurometabolic regulation 16279005
Autosomal hereditary disorder 1899006
Hereditary disorder of endocrine system 363104002
Hereditary disorder of nervous system 363235000
Congenital disease 66091009
Metabolic disease 75934005
Functional disease of the CNS with neuroendocrine disturbance 81682002
Hereditary disorder by system 363137000
Hereditary disease 32895009
Disorder of endocrine system 362969004
Disorder of the central nervous system 23853001
Genetic disease 782964007
Disorder of nervous system 118940003
Central nervous system finding 246556002
Disorder of body system 362965005
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Congenital disease 66091009

2-hydroxyglutaric aciduria 698870008

Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria 713401006

SNOMED CT code