Medical Subject Headings

Last uploaded: January 31, 2024
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Preferred Name

Amino Acid Metabolism, Inborn Errors
Synonyms

Inborn Errors, Amino Acid Metabolism

Amino Acidopathy, Inborn
Definitions

Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
ID

http://purl.bioontology.org/ontology/MESH/D000592
altLabel

Inborn Errors, Amino Acid Metabolism

Congenital Amino Acidopathies

Amino Acid Metabolism, Inborn Error

Amino Acid Metabolism Disorders, Inborn

Inborn Amino Acidopathies

Amino Acidopathy, Congenital

Inherited Errors of Amino Acid Metabolism

Amino Acid Metabolism, Inherited Disorders

Amino Acidopathies, Inborn

Congenital Amino Acidopathy

Inborn Amino Acidopathy

Amino Acidopathies, Congenital

Amino Acidopathy, Inborn
AN

coord IM with specific amino acid /metab (IM)
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui

C0750905

C0002514
DC

1
definition

Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
DX

19650101
HN

1965; PROTEIN METABOLISM DISORDERS was heading 1963-1964
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation

1965; PROTEIN METABOLISM DISORDERS was heading 1963-1964
Mapped from

http://purl.bioontology.org/ontology/MESH/C535312

http://purl.bioontology.org/ontology/MESH/C536239

http://purl.bioontology.org/ontology/MESH/C564683

http://purl.bioontology.org/ontology/MESH/C562377

http://purl.bioontology.org/ontology/MESH/C565471

http://purl.bioontology.org/ontology/MESH/C535541

http://purl.bioontology.org/ontology/MESH/C564743

http://purl.bioontology.org/ontology/MESH/C564747

http://purl.bioontology.org/ontology/MESH/C562803

http://purl.bioontology.org/ontology/MESH/C535328

http://purl.bioontology.org/ontology/MESH/C535322

http://purl.bioontology.org/ontology/MESH/C567192

http://purl.bioontology.org/ontology/MESH/C562818

http://purl.bioontology.org/ontology/MESH/C565387

http://purl.bioontology.org/ontology/MESH/C565386

http://purl.bioontology.org/ontology/MESH/C538385

http://purl.bioontology.org/ontology/MESH/C562669

http://purl.bioontology.org/ontology/MESH/C537358

http://purl.bioontology.org/ontology/MESH/C536833

http://purl.bioontology.org/ontology/MESH/C536835

http://purl.bioontology.org/ontology/MESH/C536832

http://purl.bioontology.org/ontology/MESH/C536836

http://purl.bioontology.org/ontology/MESH/C564157

http://purl.bioontology.org/ontology/MESH/C538167

http://purl.bioontology.org/ontology/MESH/C565630

http://purl.bioontology.org/ontology/MESH/C565466

http://purl.bioontology.org/ontology/MESH/C565390

http://purl.bioontology.org/ontology/MESH/C537426

http://purl.bioontology.org/ontology/MESH/C538224

http://purl.bioontology.org/ontology/MESH/C565659

http://purl.bioontology.org/ontology/MESH/C537360

http://purl.bioontology.org/ontology/MESH/C537361

http://purl.bioontology.org/ontology/MESH/C567132

http://purl.bioontology.org/ontology/MESH/C536081

http://purl.bioontology.org/ontology/MESH/C536921

http://purl.bioontology.org/ontology/MESH/C535407

http://purl.bioontology.org/ontology/MESH/C537972

http://purl.bioontology.org/ontology/MESH/C566402

http://purl.bioontology.org/ontology/MESH/C565904

http://purl.bioontology.org/ontology/MESH/C535674

http://purl.bioontology.org/ontology/MESH/C563467

http://purl.bioontology.org/ontology/MESH/C565968

http://purl.bioontology.org/ontology/MESH/C565960

http://purl.bioontology.org/ontology/MESH/C562670

http://purl.bioontology.org/ontology/MESH/C562674

http://purl.bioontology.org/ontology/MESH/C562658

http://purl.bioontology.org/ontology/MESH/C562659

http://purl.bioontology.org/ontology/MESH/C564973

http://purl.bioontology.org/ontology/MESH/C562680

http://purl.bioontology.org/ontology/MESH/C562682

http://purl.bioontology.org/ontology/MESH/C562687

http://purl.bioontology.org/ontology/MESH/C538324

http://purl.bioontology.org/ontology/MESH/C538320

http://purl.bioontology.org/ontology/MESH/C536582

http://purl.bioontology.org/ontology/MESH/C538141

http://purl.bioontology.org/ontology/MESH/C566487

http://purl.bioontology.org/ontology/MESH/C535803

http://purl.bioontology.org/ontology/MESH/C536479

http://purl.bioontology.org/ontology/MESH/C565453

http://purl.bioontology.org/ontology/MESH/C563009

http://purl.bioontology.org/ontology/MESH/C567006

http://purl.bioontology.org/ontology/MESH/C538246

http://purl.bioontology.org/ontology/MESH/C563085

http://purl.bioontology.org/ontology/MESH/C563080

http://purl.bioontology.org/ontology/MESH/C537437

http://purl.bioontology.org/ontology/MESH/C537236

http://purl.bioontology.org/ontology/MESH/C535307

http://purl.bioontology.org/ontology/MESH/C535434

http://purl.bioontology.org/ontology/MESH/C562876

http://purl.bioontology.org/ontology/MESH/C565278

http://purl.bioontology.org/ontology/MESH/C536524
MDA

19990101
MMR

20060705
MN

C16.320.565.100

C18.452.648.100
notation

D000592
prefLabel

Amino Acid Metabolism, Inborn Errors
TERMUI

T366029

T366030

T366011

T366033

T366031

T366010

T001792

T001791

T366032
TH

NLM (2000)

NLM (1991)

NLM (1966)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D008661
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MSHFRE/D000592 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10021602 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10045768 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10001938 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10084108 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/44779003 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10001938 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/190680002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002514 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/ICD9CM/270.9 ICD9CM CUI
http://purl.bioontology.org/ontology/ICD10CM/E72.9 ICD10CM CUI
http://purl.bioontology.org/ontology/ICPC2P/T99005 ICPC2P CUI
http://purl.bioontology.org/ontology/SNOMEDCT/42930003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000369 NDFRT CUI
http://purl.bioontology.org/ontology/SNMI/D6-A0100 SNMI CUI
http://purl.bioontology.org/ontology/ICD9CM/270 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10021602 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/1849-0342 CRISP CUI
http://purl.bioontology.org/ontology/SCTSPA/190680002 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10045768 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/44779003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10084108 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D000592 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10021602 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10084108 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D6-A0000 SNMI CUI
http://purl.bioontology.org/ontology/ICD10/E72.9 ICD10 CUI
http://purl.bioontology.org/ontology/SCTSPA/42930003 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10001938 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10045768 MDRFRE CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.100 RH-MESH LOOM
http://purl.jp/bio/4/id/200906014829309375 IOBC LOOM
http://purl.obolibrary.org/obo/OMIT_0002010 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.100 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000592 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036640 PMAPP-PMO LOOM