PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Urea Cycle Disorders, Inborn

Synonyms
Definitions

An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.

ID

http://www.phoc.org.cn/pmo/class/PMO_00036646

Database_Cross_Reference

ICD9CM:270.6

ICD10AM:E72.2

CSP:1849-9321

ICD10:E72.2

DO:DOID:9267

MDR:10013373

SNOMEDCT_US:36444000

NDFRT:N0000181054

ICD10CM:E72.20

SNMI:D6-A5000

NCI_NICHD:C84785

MSH:D056806

MTHICD9:270.6

CHV:0000017387

ICD10CM:E72.2

NCI:C84785

RCD:C306.

Definition

An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.

label

Urea Cycle Disorders, Inborn

MCID

MC00059924

PMOID

PMO:00036646

prefixIRI

pmo:PMO_00036646

prefLabel

Urea Cycle Disorders, Inborn

Synonym

6-A5 DISORDERS OF THE UREA CYCLE METABOLISM

Disorder of the urea cycle metabolism, NOS

Inborn Urea Cycle Disorder

inborn urea cycle disorder

urea cycle defect

Disorders, Urea Cycle

Disorder of Urea Cycle Metabolism

Disorder of the urea cycle metabolism

Dis urea cycle metabol

cycle disorders urea

DISORDERS OF THE UREA CYCLE METABOLISM

Disorder, Urea Cycle

Disorder of the urea cycle metabolism (disorder)

disorder of the urea cycle metabolism

Urea Cycle Disorders, Inborn [Disease/Finding]

Disorder of urea cycle

urea cycle disorder

disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia

Urea Cycle Metabolism Disorder

Disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia

Urea Cycle Disorder

disorder of urea cycle metabolism

Urea Cycle Disorders

of urea cycle disorder

Disorders of urea cycle metabolism

Disorder of urea cycle metabolism, unspecified

Tree Number

T9.21.15.5.17.2.11

T9.8.4.14.6.3

T9.11.1.6.2.11

T9.8.4.14.8.11

T9.11.1.12.6.3

T9.11.1.12.8.11

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00038495

http://www.phoc.org.cn/pmo/class/PMO_00036640

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