Methylmalonic aciduria due to transcobalamin receptor defect 771444002

SNOMED CT code

SNOMED code

771444002

name

Methylmalonic aciduria due to transcobalamin receptor defect

status

active

date introduced

2019-01-31

fully specified name(s)

Methylmalonic aciduria due to transcobalamin receptor defect (disorder)

synonyms

Methylmalonic acidaemia TCb1R type
Methylmalonic aciduria due to transcobalamin receptor defect
Methylmalonic acidemia TCb1R type

parents

Methylmalonic acidemia 42393006
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Metabolic disease 75934005
Disorder of organic acid metabolism 116021002
Non-amino organic acidemia AND/OR aciduria 26513001
Methylmalonic acidemia 42393006
Methylmalonic aciduria due to transcobalamin receptor defect 771444002

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Methylmalonic aciduria due to transcobalamin receptor defect 771444002

ancestors

sorted most to least specific

Methylmalonic acidemia 42393006
Autosomal recessive hereditary disorder 85995004
Disorder of branched-chain amino acid metabolism 116020001
Autosomal hereditary disorder 1899006
Non-amino organic acidemia AND/OR aciduria 26513001
Acidemia 70731005
Disorder of propionate AND/OR methylmalonate metabolism 84618009
Disorder of amino acid and organic acid metabolism 237911005
Hereditary disease 32895009
Disorder of acid-base balance 26436007
Disorder of amino acid metabolism 44779003
Genetic disease 782964007
Disorder of organic acid metabolism 116021002
Metabolic disease 75934005
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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RISK ADJUSTMENT

SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Metabolic disease 75934005

Disorder of organic acid metabolism 116021002

Non-amino organic acidemia AND/OR aciduria 26513001

Methylmalonic acidemia 42393006

Methylmalonic aciduria due to transcobalamin receptor defect 771444002

SNOMED CT code