{

• "id": "http://purl.bioontology.org/ontology/SNOMEDCT/7573000",
• "prefLabel": "Classical phenylketonuria",
• -
  "subClassOf": [
  • "http://purl.bioontology.org/ontology/SNOMEDCT/190687004"
  ],
• "obsolete": false,
• -
  "synonym": [
  • "Imbecilitus phenylpyruvica",
  • "Classical phenylketonuria (disorder)",
  • "Severe phenylalanine hydroxylase deficiency",
  • "Hyperphenylalaninemia, type I",
  • "Hyperphenylalaninaemia, type I"
  ],
• "definition": [ ],
• -
  "parents": [
  • -
    {
    • "id": "http://purl.bioontology.org/ontology/SNOMEDCT/190687004",
    • "prefLabel": "Phenylketonuria",
    • -
      "subClassOf": [
      • "http://purl.bioontology.org/ontology/SNOMEDCT/85995004",
      • "http://purl.bioontology.org/ontology/SNOMEDCT/68528007",
      • "http://purl.bioontology.org/ontology/SNOMEDCT/78548001",
      • "http://purl.bioontology.org/ontology/SNOMEDCT/86095007"
      ],
    • "obsolete": false,
    • -
      "synonym": [
      • "Phenylketonuria (disorder)",
      • "Oligophrenia phenylpyruvica",
      • "Folling disease",
      • "PAH-gene related phenylketonuria",
      • "Phenylalanine hydroxylase deficiency",
      • "PAH (phenylalanine hydroxylase) deficiency",
      • "PKU - phenylketonuria"
      ],
    • -
      "definition": [
      • "A rare inborn error of amino acid metabolism with characteristics of elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. The most common form of the condition is known as classical phenylketonuria and has severe symptoms. A mild form has also been described (mild PKU), and an even milder form known as mild hyperphenylalaninemia (mild HPA or non-PKU HPA). A subset of patients with milder phenotypes has been found to be responsive to tetrahydrobiopterin (BH4), the cofactor of phenylalanine hydroxylase (BH4-responsive HPA). The disease is caused by a wide range of variants in the PAH gene (12q22-q24.2) coding for phenylalanine hydroxylase. Transmission is autosomal recessive.",
      • "A rare inborn error of amino acid metabolism with characteristics of elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. The most common form of the condition is known as classical phenylketonuria and has severe symptoms. A mild form has also been described (mild PKU), and an even milder form known as mild hyperphenylalaninaemia (mild HPA or non-PKU HPA). A subset of patients with milder phenotypes has been found to be responsive to tetrahydrobiopterin (BH4), the cofactor of phenylalanine hydroxylase (BH4-responsive HPA). The disease is caused by a wide range of variants in the PAH gene (12q22-q24.2) coding for phenylalanine hydroxylase. Transmission is autosomal recessive."
      ],
    • -
      "cui": [
      • "C0031485"
      ],
    • -
      "semanticType": [
      • "http://purl.bioontology.org/ontology/STY/T047"
      ],
    • "label": [ ],
    • "prefixIRI": null,
    • "notation": "190687004",
    • "xref": null,
    • "created": null,
    • "modified": null,
    • "@id": "http://purl.bioontology.org/ontology/SNOMEDCT/190687004",
    • "@type": "http://www.w3.org/2002/07/owl#Class",
    • -
      "links": {
      • "self": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F190687004",
      • "ontology": "https://data.bioontology.org/ontologies/SNOMEDCT",
      • "children": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F190687004/children",
      • "parents": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F190687004/parents",
      • "descendants": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F190687004/descendants",
      • "ancestors": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F190687004/ancestors",
      • "instances": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F190687004/instances",
      • "tree": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F190687004/tree",
      • "notes": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F190687004/notes",
      • "mappings": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F190687004/mappings",
      • "ui": "http://bioportal.bioontology.org/ontologies/SNOMEDCT?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F190687004",
      • -
        "@context": {
        • "self": "http://www.w3.org/2002/07/owl#Class",
        • "ontology": "http://data.bioontology.org/metadata/Ontology",
        • "children": "http://www.w3.org/2002/07/owl#Class",
        • "parents": "http://www.w3.org/2002/07/owl#Class",
        • "descendants": "http://www.w3.org/2002/07/owl#Class",
        • "ancestors": "http://www.w3.org/2002/07/owl#Class",
        • "instances": "http://data.bioontology.org/metadata/Instance",
        • "tree": "http://www.w3.org/2002/07/owl#Class",
        • "notes": "http://data.bioontology.org/metadata/Note",
        • "mappings": "http://data.bioontology.org/metadata/Mapping",
        • "ui": "http://www.w3.org/2002/07/owl#Class"
        }
      },
    • -
      "@context": {
      • "@vocab": "http://data.bioontology.org/metadata/",
      • "label": "http://www.w3.org/2000/01/rdf-schema#label",
      • "prefLabel": "http://www.w3.org/2004/02/skos/core#prefLabel",
      • "synonym": "http://www.w3.org/2004/02/skos/core#altLabel",
      • "definition": "http://www.w3.org/2004/02/skos/core#definition",
      • "obsolete": "http://www.w3.org/2002/07/owl#deprecated",
      • "notation": "http://www.w3.org/2004/02/skos/core#notation",
      • "prefixIRI": "http://data.bioontology.org/metadata/prefixIRI",
      • "subClassOf": "http://www.w3.org/2000/01/rdf-schema#subClassOf",
      • "semanticType": "http://bioportal.bioontology.org/ontologies/umls/hasSTY",
      • "cui": "http://bioportal.bioontology.org/ontologies/umls/cui",
      • "xref": "http://www.geneontology.org/formats/oboInOwl#hasDbXref",
      • "created": "http://purl.org/dc/terms/created",
      • "modified": "http://purl.org/dc/terms/modified",
      • "@language": "en"
      }
    }
  ],
• -
  "cui": [
  • "C0751434"
  ],
• -
  "semanticType": [
  • "http://purl.bioontology.org/ontology/STY/T047"
  ],
• "label": [ ],
• "prefixIRI": null,
• "notation": "7573000",
• "xref": null,
• "created": null,
• "modified": null,
• -
  "properties": {
  • -
    "http://purl.bioontology.org/ontology/SNOMEDCT/TYPE_ID": [
    • "900000000000003001",
    • "900000000000013009"
    ],
  • -
    "http://purl.bioontology.org/ontology/SNOMEDCT/CASE_SIGNIFICANCE_ID": [
    • "900000000000020002",
    • "900000000000448009",
    • "900000000000017005"
    ],
  • -
    "http://www.w3.org/2004/02/skos/core#notation": [
    • "7573000"
    ],
  • -
    "http://www.w3.org/2004/02/skos/core#altLabel": [
    • "Imbecilitus phenylpyruvica",
    • "Classical phenylketonuria (disorder)",
    • "Severe phenylalanine hydroxylase deficiency",
    • "Hyperphenylalaninemia, type I",
    • "Hyperphenylalaninaemia, type I"
    ],
  • -
    "http://purl.bioontology.org/ontology/SNOMEDCT/EFFECTIVE_TIME": [
    • "20020131"
    ],
  • -
    "http://purl.bioontology.org/ontology/SNOMEDCT/ACTIVE": [
    • "1"
    ],
  • -
    "http://purl.bioontology.org/ontology/SNOMEDCT/INACTIVATION_INDICATOR": [
    • "723278000",
    • "723277005"
    ],
  • -
    "http://www.w3.org/2004/02/skos/core#prefLabel": [
    • "Classical phenylketonuria"
    ],
  • -
    "http://purl.bioontology.org/ontology/SNOMEDCT/associated_finding_of": [
    • "http://purl.bioontology.org/ontology/SNOMEDCT/64161000119102",
    • "http://purl.bioontology.org/ontology/SNOMEDCT/428655008",
    • "http://purl.bioontology.org/ontology/SNOMEDCT/429106008"
    ],
  • -
    "http://www.w3.org/2000/01/rdf-schema#subClassOf": [
    • "http://purl.bioontology.org/ontology/SNOMEDCT/190687004"
    ],
  • -
    "http://bioportal.bioontology.org/ontologies/umls/hasSTY": [
    • "http://purl.bioontology.org/ontology/STY/T047"
    ],
  • -
    "http://purl.bioontology.org/ontology/SNOMEDCT/focus_of": [
    • "http://purl.bioontology.org/ontology/SNOMEDCT/314081000",
    • "http://purl.bioontology.org/ontology/SNOMEDCT/183058004",
    • "http://purl.bioontology.org/ontology/SNOMEDCT/284362005"
    ],
  • -
    "http://www.w3.org/1999/02/22-rdf-syntax-ns#type": [
    • "http://www.w3.org/2002/07/owl#Class"
    ],
  • -
    "http://purl.bioontology.org/ontology/SNOMEDCT/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"
    ],
  • -
    "http://purl.bioontology.org/ontology/SNOMEDCT/DEFINITION_STATUS_ID": [
    • "900000000000074008"
    ],
  • -
    "http://bioportal.bioontology.org/ontologies/umls/tui": [
    • "T047"
    ],
  • -
    "http://purl.bioontology.org/ontology/SNOMEDCT/CTV3ID": [
    • "Xa0lA"
    ],
  • -
    "http://purl.bioontology.org/ontology/SNOMEDCT/occurs_in": [
    • "http://purl.bioontology.org/ontology/SNOMEDCT/255399007"
    ],
  • -
    "http://bioportal.bioontology.org/ontologies/umls/cui": [
    • "C0751434"
    ]
  },
• "@id": "http://purl.bioontology.org/ontology/SNOMEDCT/7573000",
• "@type": "http://www.w3.org/2002/07/owl#Class",
• -
  "links": {
  • "self": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F7573000",
  • "ontology": "https://data.bioontology.org/ontologies/SNOMEDCT",
  • "children": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F7573000/children",
  • "parents": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F7573000/parents",
  • "descendants": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F7573000/descendants",
  • "ancestors": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F7573000/ancestors",
  • "instances": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F7573000/instances",
  • "tree": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F7573000/tree",
  • "notes": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F7573000/notes",
  • "mappings": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F7573000/mappings",
  • "ui": "http://bioportal.bioontology.org/ontologies/SNOMEDCT?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F7573000",
  • -
    "@context": {
    • "self": "http://www.w3.org/2002/07/owl#Class",
    • "ontology": "http://data.bioontology.org/metadata/Ontology",
    • "children": "http://www.w3.org/2002/07/owl#Class",
    • "parents": "http://www.w3.org/2002/07/owl#Class",
    • "descendants": "http://www.w3.org/2002/07/owl#Class",
    • "ancestors": "http://www.w3.org/2002/07/owl#Class",
    • "instances": "http://data.bioontology.org/metadata/Instance",
    • "tree": "http://www.w3.org/2002/07/owl#Class",
    • "notes": "http://data.bioontology.org/metadata/Note",
    • "mappings": "http://data.bioontology.org/metadata/Mapping",
    • "ui": "http://www.w3.org/2002/07/owl#Class"
    }
  },
• -
  "@context": {
  • "@vocab": "http://data.bioontology.org/metadata/",
  • "label": "http://www.w3.org/2000/01/rdf-schema#label",
  • "prefLabel": "http://www.w3.org/2004/02/skos/core#prefLabel",
  • "synonym": "http://www.w3.org/2004/02/skos/core#altLabel",
  • "definition": "http://www.w3.org/2004/02/skos/core#definition",
  • "obsolete": "http://www.w3.org/2002/07/owl#deprecated",
  • "notation": "http://www.w3.org/2004/02/skos/core#notation",
  • "prefixIRI": "http://data.bioontology.org/metadata/prefixIRI",
  • "parents": "http://www.w3.org/2000/01/rdf-schema#parents",
  • "subClassOf": "http://www.w3.org/2000/01/rdf-schema#subClassOf",
  • "semanticType": "http://bioportal.bioontology.org/ontologies/umls/hasSTY",
  • "cui": "http://bioportal.bioontology.org/ontologies/umls/cui",
  • "xref": "http://www.geneontology.org/formats/oboInOwl#hasDbXref",
  • "created": "http://purl.org/dc/terms/created",
  • "modified": "http://purl.org/dc/terms/modified",
  • "@language": "en"
  }

}