SNOMED CT

Last uploaded: January 31, 2024
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Preferred Name

Classical phenylketonuria
Synonyms

Imbecilitus phenylpyruvica

Hyperphenylalaninaemia, type I
ID

http://purl.bioontology.org/ontology/SNOMEDCT/7573000
Active

1
altLabel

Imbecilitus phenylpyruvica

Classical phenylketonuria (disorder)

Severe phenylalanine hydroxylase deficiency

Hyperphenylalaninemia, type I

Hyperphenylalaninaemia, type I
Associated finding of

http://purl.bioontology.org/ontology/SNOMEDCT/64161000119102

http://purl.bioontology.org/ontology/SNOMEDCT/428655008

http://purl.bioontology.org/ontology/SNOMEDCT/429106008
CASE SIGNIFICANCE ID

900000000000020002

900000000000448009

900000000000017005
CTV3ID

Xa0lA
cui

C0751434
DEFINITION STATUS ID

900000000000074008
Effective time

20020131
Focus of

http://purl.bioontology.org/ontology/SNOMEDCT/314081000

http://purl.bioontology.org/ontology/SNOMEDCT/183058004

http://purl.bioontology.org/ontology/SNOMEDCT/284362005
INACTIVATION INDICATOR

723278000

723277005
notation

7573000
Occurs in

http://purl.bioontology.org/ontology/SNOMEDCT/255399007
prefLabel

Classical phenylketonuria
Subset member

900000000000497000~MAPTARGET~Xa0lA

447562003~MAPRULE~TRUE

6011000124106~MAPADVICE~IF PERSISTENT HYPERPHENYLALANINEMIA AND TYROSINEMIA CHOOSE E70.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~E70.1

447562003~MAPTARGET~E70.1

900000000000490003~VALUEID~723277005

447562003~MAPADVICE~ALWAYS E70.0

6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA

6011000124106~MAPTARGET~

6011000124106~MAPCATEGORYID~447638001

447562003~MAPTARGET~E70.2

6011000124106~MAPRULE~IFA 40751003 | Persistent hyperphenylalaninemia AND tyrosinemia |

6011000124106~MAPADVICE~IF PERSISTENT HYPERPHENYLALANINEMIA AND TYROSINEMIA CHOOSE E70.21 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPGROUP~1

6011000124106~MAPGROUP~2

447562003~MAPGROUP~2

447562003~MAPRULE~IFA 40751003 | Persistent hyperphenylalaninemia AND tyrosinemia (disorder) |

447562003~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA

900000000000508004~ACCEPTABILITYID~900000000000549004

447562003~MAPGROUP~1

447562003~CORRELATIONID~447561005

447562003~MAPRULE~OTHERWISE TRUE

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

6011000124106~MAPRULE~IFA 40751003 | Persistent hyperphenylalaninemia AND tyrosinemia (disorder) |

6011000124106~MAPADVICE~IF PERSISTENT HYPERPHENYLALANINEMIA CHOOSE E70.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000508004~ACCEPTABILITYID~900000000000548007

6011000124106~MAPRULE~IFA 440009 | Persistent hyperphenylalaninemia |

447562003~MAPTARGET~

447562003~MAPPRIORITY~1

447562003~MAPCATEGORYID~447637006

6011000124106~MAPRULE~OTHERWISE TRUE

6011000124106~MAPADVICE~ALWAYS E70.0

447562003~MAPTARGET~E70.0

447562003~MAPADVICE~IF PERSISTENT HYPERPHENYLALANINEMIA CHOOSE E70.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPCATEGORYID~447639009

900000000000531004~TARGETCOMPONENT~190687004

447562003~MAPCATEGORYID~447639009

6011000124106~MAPRULE~IFA 440009 | Persistent hyperphenylalaninemia (disorder) |

6011000124106~MAPPRIORITY~1

900000000000490003~VALUEID~723278000

6011000124106~CORRELATIONID~447561005

447562003~MAPPRIORITY~2

6011000124106~MAPTARGET~E70.21

447562003~MAPRULE~IFA 440009 | Persistent hyperphenylalaninemia (disorder) |

6011000124106~MAPPRIORITY~3

900000000000509007~ACCEPTABILITYID~900000000000549004

6011000124106~MAPPRIORITY~2

6011000124106~MAPTARGET~E70.0

447562003~MAPCATEGORYID~447638001

447562003~MAPADVICE~IF PERSISTENT HYPERPHENYLALANINEMIA AND TYROSINEMIA CHOOSE E70.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
tui

T047
Type ID

900000000000003001

900000000000013009
subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/190687004
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10034875 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10034875 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/MTHU010141 OMIM CUI
http://purl.bioontology.org/ontology/MSHFRE/D010661 MSHFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.0 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10/E70.0 ICD10 CUI
http://purl.bioontology.org/ontology/RCD/Xa0lA RCD CUI
http://purl.bioontology.org/ontology/OMIM/261600 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/7573000 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10034875 MDRFRE CUI
http://purl.bioontology.org/ontology/LNC/LA12520-5 LOINC CUI
http://purl.bioontology.org/ontology/CSP/1849-1234 CRISP CUI
http://purl.bioontology.org/ontology/RCD/X40Rb RCD CUI
http://purl.bioontology.org/ontology/SNMI/D6-A1120 SNMI CUI
http://purl.bioontology.org/ontology/RCD/C301. RCD CUI
http://purl.bioontology.org/ontology/MESH/D010661 MESH CUI
http://purl.bioontology.org/ontology/OMIM/612349 OMIM CUI
http://www.orpha.net/ORDO/Orphanet_79254 EFO LOOM
http://www.limics.fr/ontologies/ontolurgences#PhenylcetonurieClassique ONTOLURGENCES LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Classical_Phenylketonuria ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Classical_Phenylketonuria MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Classical_Phenylketonuria EPISEM LOOM
http://purl.bioontology.org/ontology/ICD10CM/E70.0 ICD10CM LOOM
http://purl.bioontology.org/ontology/ICD10/E70.0 ICD10 LOOM
http://purl.bioontology.org/ontology/RCD/Xa0lA RCD LOOM
http://www.owl-ontologies.com/Ontology1172270693.owl#Classical_Phenylketonuria FHHO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11280 HRDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C117117 NCIT LOOM
http://purl.obolibrary.org/obo/NCIT_C117117 BERO LOOM
http://purl.bioontology.org/ontology/SNMI/D6-A1120 SNMI LOOM
http://www.gamuts.net/entity#phenylketonuria GAMUTS REST