PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Cystathioninuria
Synonyms
Definitions

An elevated urinary concentration of cystathionine.

ID

http://www.phoc.org.cn/pmo/class/PMO_00003875

Database_Cross_Reference

MTH:NOCODE

CSP:4001-0049

SNM:D-1682

MEDCIN:33543

MTHICD9:270.4

HPO:HP:0003153

OMIM:219500

OMIM:607657

NCI:C129070

SNOMEDCT_US:13003007

CSP:1849-0342

DXP:NOCODE

SNMI:D6-B4182

RCD:C3041

ICD10CM:E72.19

DO:DOID:0090142

Definition

An elevated urinary concentration of cystathionine.

label

Cystathioninuria

MCID

MC00070659

PMOID

PMO:00003875

prefixIRI

pmo:PMO_00003875

prefLabel

Cystathioninuria

Synonym

CYSTATHIONINURIA

cystathioninuria (diagnosis)

cystathione gamma-lyase deficiency syndrome

cystathionase deficiency

Cystathioninuria, NOS

gamma-cystathionase deficiency

Cystathioninuria (disorder)

High urine cystathionine levels

CTH - Cystathioninuria

Tree Number

T3.13.16.1.11.1

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00003870

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