Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 764456001

SNOMED CT code

SNOMED code

764456001

name

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

status

active

date introduced

2018-07-31

fully specified name(s)

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)

synonyms

CA-VA (carbonic anhydrase VA) deficiency
Carbonic anhydrase VA deficiency
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
CA5A related hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Carbonic anhydrase 5A related hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

attributes - group1

Finding site

Brain tissue structure 280369009

Occurrence

Congenital 255399007

attributes - group2

Due to

Hyperammonemia 9360008

parents

Disorder of branched-chain amino acid metabolism 116020001
Inherited metabolic disorder of nervous system 128190004
Hyperammonemic encephalopathy 425522009
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
Disorder of amino acid metabolism 44779003
Disorder of amino acid and organic acid metabolism 237911005
Disorder of branched-chain amino acid metabolism 116020001
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 764456001

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
Inborn error of metabolism 86095007
Inherited metabolic disorder of nervous system 128190004
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 764456001

SNOMED CT Concept 138875005
Clinical finding 404684003
Central nervous system finding 246556002
Disorder of the central nervous system 23853001
Central nervous system complication 87536007
Hyperammonemic encephalopathy 425522009
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 764456001

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 764456001

ancestors

sorted most to least specific

Disorder of branched-chain amino acid metabolism 116020001
Inherited metabolic disorder of nervous system 128190004
Hyperammonemic encephalopathy 425522009
Autosomal recessive hereditary disorder 85995004
Disorder of amino acid and organic acid metabolism 237911005
Hereditary disorder of nervous system 363235000
Toxic encephalopathy 28394000
Autosomal hereditary disorder 1899006
Inborn error of metabolism 86095007
Central nervous system complication 87536007
Disorder of amino acid metabolism 44779003
Toxic metabolic encephalopathy 472916000
Hereditary metabolic disease 1821000146108
Hereditary disorder by system 363137000
Congenital disease 66091009
Disorder of organic acid metabolism 116021002
Disorder of brain 81308009
Hereditary disease 32895009
Metabolic disease 75934005
Disorder of head 118934005
Genetic disease 782964007
Disorder of the central nervous system 23853001
Finding of brain 299718000
Disorder of nervous system 118940003
Head finding 406122000
Central nervous system finding 246556002
Disorder of body system 362965005
Finding of head and neck region 118254002
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

Disorder of organic acid metabolism 116021002

Disorder of amino acid metabolism 44779003

Disorder of amino acid and organic acid metabolism 237911005

Disorder of branched-chain amino acid metabolism 116020001

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 764456001

SNOMED CT code