Amino Acid Metabolism Disorder

Preferred Label : Amino Acid Metabolism Disorder;

NCIt related terms : Disorder of Amino Acid Metabolism;

NCIt definition : An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.;

Details

Origin ID

C97090;

UMLS CUI

C0002514;

Currated CISMeF NLP mapping
- Amino acid metabolism disorder [MedDRA Preferred Term]
- Disorder of amino acid metabolism (disorder) [SNOMED CT concept]
- Disorder of amino-acid metabolism, unspecified [ICD-10 Sub-category]
- Disorders of amino acid transport and metabolism (disorder) [SNOMED CT concept]
- Unspecified disorder of amino-acid metabolism [ICD-9 code]
- amino acid metabolic disorder [DO Concept]
- disorder of amino acid metabolism, nos [SNOMED Notion]
- disorders of amino acid and protein metabolism [Disease (Nov.)]
DO Cross reference
- amino acid metabolic disorder [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amino acid metabolism disorder [MedDRA Preferred Term]
- Disorder of amino acid metabolism (disorder) [SNOMED CT concept]
- Disorder of amino-acid metabolism, unspecified [ICD-10 Sub-category]
- Disorders of amino acid transport and metabolism (disorder) [SNOMED CT concept]
- Disorders of amino-acid transport and metabolism [ICD-9 code]
- Inborn error of amino acid metabolism [MedDRA Preferred Term]
- Inborn error of amino acid metabolism (disorder) [SNOMED CT concept]
- Inborn errors of amino acid metabolism [MedDRA High Level Term]
- Unspecified disorder of amino-acid metabolism [MedDRA LLT]
- Unspecified disorder of amino-acid metabolism [ICD-9 code]
- amino acid metabolic disorder [DO Concept]
- amino acid metabolism disorders [MedlinePlus Topic]
- amino acid metabolism, inborn errors [MeSH concept]
- amino acid metabolism, inborn errors [MeSH Descriptor]
- disorder of amino acid metabolism, nos [SNOMED Notion]
- disorders of amino acid and protein metabolism [Disease (Nov.)]
- inborn error of amino acid metabolism, nos [SNOMED Notion]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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