PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Porphyrias
Synonyms
Definitions

An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.

ID

http://www.phoc.org.cn/pmo/class/PMO_00038591

Database_Cross_Reference

CST:METPORPHYRIA

MTHICD9:277.1

CST:PORPHYRIA

MTH:NOCODE

LCH:U003771

SNMI:D6-88100

AOD:0000005783

RCD:C371.

SNM:U000011

SNOMEDCT_US:86292002

MDR:10036181

COSTAR:NOCODE

MEDCIN:33596

MEDCIN:337572

SNM:D-4200

SNOMEDCT_US:190916001

CCPSS:0031656

OMIM:MTHU018705

MDR:10061356

MEDLINEPLUS:1249

NCI:C97096

MDR:10036190

ICD9CM:277.1

LCH_NW:sh85105021

SNOMEDCT_US:238052001

CHV:0000009972

SNMI:D6-88000

AOD:0000023469

RCD:C371z

SNOMEDCT_US:371628009

SNOMEDCT_US:154768004

NDFRT:N0000002464

SNOMEDCT_US:274090006

ICD10CM:E80.20

SNOMEDCT_US:418470004

MDR:10013349

MDR:10036188

DO:DOID:13268

ICPC2P:T99026

CSP:1849-7403

PSY:39590

MSH:D011164

RCD:X40WP

SNOMEDCT_US:190912004

CCPSS:0009853

RCD:XM0qH

AOD:0000005784

SNOMEDCT_US:29094004

Definition

An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.

label

Porphyrias

MCID

MC00010494

PMOID

PMO:00038591

prefixIRI

pmo:PMO_00038591

prefLabel

Porphyrias

Synonym

Porphyria NOS (disorder)

Porphyrin Disorder

porphyrin disorder

Porphyria

Porphyrinopathy (disorder)

Disorders of porphyrin metabolism

PORPHYRIA

PORPHYRIN METABOLISM DISORDER

disorder of porphyrin metabolism

disorder of porphyrin metabolism (diagnosis)

Porphyrinopathy

Dis porphyrin metabolism

Porphyrin metabolism disorder

Porphyria, NOS

porphyria (diagnosis)

porphyrinopathies

Disorders of Porphyrin Metabolism

Disorder, Porphyrin

porphyria

Disorder of porphyrin and heme metabolism (disorder)

porphyrias

Porphyria NOS

Disord of porphyrin & haem met

Porphyrin metabolism disorder NOS

disorder of porphyrin and hem metabolism

Disorder of porphyrin and heme metabolism

porphyrinopathy

Porphyrias [Disease/Finding]

Disorder of porphyrin metabolism, NOS

Porphyrin Disorders

Disorder of porphyrin metabolism (disorder)

Porphyrin metabolism disorders

disorders of porphyrin metabolism

Disorders of porphyrin metabolism (disorder)

DISORDERS OF PORPHYRIN METABOLISM

Unspecified porphyria

Disorder of porphyrin metabolism

Porphyrinopathy, NOS

Disorder of porphyrin and hem metabolism

Disorders, Porphyrin

Disorder of porphyrin and haem metabolism

Porphyria (disorder)

6-88 DISORDERS OF PORPHYRIN METABOLISM

Hematoporphyria

Tree Number

T9.11.1.9

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00038485

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