Link to this page
SNOMED CT, US Edition
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/51022005
http://purl.bioontology.org/ontology/SNOMEDCT/51022005
|
|---|---|
| Preferred Name | Erythropoietic protoporphyria |
| Synonyms |
Erythrohepatic protoporphyria
EPP - erythropoietic protoporphyria
Protoporphyria
Heme synthase deficiency
Haem synthase deficiency
Magnus syndrome
Erythropoietic protoporphyria (disorder)
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| prefLabel | Erythropoietic protoporphyria
|
|---|---|
| altLabel |
Erythrohepatic protoporphyria
EPP - erythropoietic protoporphyria
Protoporphyria
Heme synthase deficiency
Haem synthase deficiency
Magnus syndrome
Erythropoietic protoporphyria (disorder)
See more
See less
|
| Type ID |
900000000000003001
900000000000013009
|
| Semantic type UMLS property | |
| Effective time | 20020131
|
| cui |
C0162568
C0349426
|
| CTV3ID | C3711
|
| DEFINITION STATUS ID | 900000000000074008
|
| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
|
| Occurs in | |
| tui | T047
|
| Active | 1
|
| notation | 51022005
|
| INACTIVATION INDICATOR | 723277005
|
| type | |
| subClassOf | |
| Subset member | 6011000124106~MAPADVICE~ALWAYS E80.0
447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~IF ERYTHROPOIETIC PROTOPORPHYRIA DUE TO GAIN OF FUNCTION OF ERYTHROID-SPECIFIC AMINOLEVULINIC ACID SYNTHASE 2 CHOOSE E72.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
447562003~MAPTARGET~E80.0
900000000000490003~VALUEID~723277005
6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
6011000124106~MAPTARGET~
6011000124106~MAPCATEGORYID~447638001
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPADVICE~IF ERYTHROPOIETIC PROTOPORPHYRIA DUE TO GAIN OF FUNCTION OF ERYTHROID-SPECIFIC AMINOLEVULINIC ACID SYNTHASE 2 CHOOSE E80.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000497000~MAPTARGET~C3711
6011000124106~MAPTARGET~E80.0
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPRULE~OTHERWISE TRUE
6011000124106~MAPCATEGORYID~447639009
6011000124106~MAPTARGET~E72.89
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
6011000124106~MAPRULE~IFA 1186810009 | Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 |
447562003~MAPADVICE~ALWAYS E80.0
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPPRIORITY~2
See more
See less
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |