{

"id": "http://purl.bioontology.org/ontology/SNOMEDCT/42393006",
"prefLabel": "Methylmalonic acidemia",
-
"synonym": [
- "Methylmalonic acidaemia",
- "MMA - Methylmalonic aciduria",
- "Methylmalonic acidemia (disorder)"
],
"definition": [ ],
-
"cui": [
- "C0268583"
],
-
"semanticType": [
- "http://purl.bioontology.org/ontology/STY/T047"
],
"obsolete": false,
-
"subClassOf": [
- "http://purl.bioontology.org/ontology/SNOMEDCT/116020001",
- "http://purl.bioontology.org/ontology/SNOMEDCT/70731005",
- "http://purl.bioontology.org/ontology/SNOMEDCT/26513001",
- "http://purl.bioontology.org/ontology/SNOMEDCT/84618009"
],
-
"parents": [
- -
  {
  - "id": "http://purl.bioontology.org/ontology/SNOMEDCT/116020001",
  - "prefLabel": "Disorder of branched-chain amino acid metabolism",
  - -
    "synonym": [
    - "Branched chain amino acid metabolism disorder",
    - "Disorder of branched chain amino acid metabolism",
    - "Disorder of branched-chain amino acid metabolism (disorder)"
    ],
  - "definition": [ ],
  - -
    "cui": [
    - "C0342712"
    ],
  - -
    "semanticType": [
    - "http://purl.bioontology.org/ontology/STY/T047"
    ],
  - "obsolete": false,
  - -
    "subClassOf": [
    - "http://purl.bioontology.org/ontology/SNOMEDCT/237911005"
    ],
  - "notation": "116020001",
  - "label": [ ],
  - "prefixIRI": null,
  - "xref": null,
  - "created": null,
  - "modified": null,
  - "@id": "http://purl.bioontology.org/ontology/SNOMEDCT/116020001",
  - "@type": "http://www.w3.org/2002/07/owl#Class",
  - -
    "links": {
    },
  - -
    "@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"
    }
  },
- -
  {
  - "id": "http://purl.bioontology.org/ontology/SNOMEDCT/70731005",
  - "prefLabel": "Acidemia",
  - -
    "synonym": [
    - "Acidaemia",
    - "Acidemia (disorder)"
    ],
  - "definition": [ ],
  - -
    "cui": [
    - "C0268030"
    ],
  - -
    "semanticType": [
    - "http://purl.bioontology.org/ontology/STY/T046"
    ],
  - "obsolete": false,
  - -
    "subClassOf": [
    - "http://purl.bioontology.org/ontology/SNOMEDCT/26436007"
    ],
  - "notation": "70731005",
  - "label": [ ],
  - "prefixIRI": null,
  - "xref": null,
  - "created": null,
  - "modified": null,
  - "@id": "http://purl.bioontology.org/ontology/SNOMEDCT/70731005",
  - "@type": "http://www.w3.org/2002/07/owl#Class",
  - -
    "links": {
    },
  - -
    "@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"
    }
  },
- -
  {
  - "id": "http://purl.bioontology.org/ontology/SNOMEDCT/26513001",
  - "prefLabel": "Non-amino organic acidemia AND/OR aciduria",
  - -
    "synonym": [
    - "Non-amino organic acidemia AND/OR aciduria (disorder)",
    - "Non-amino organic acidaemia AND/OR aciduria"
    ],
  - "definition": [ ],
  - -
    "cui": [
    - "C0268593"
    ],
  - -
    "semanticType": [
    - "http://purl.bioontology.org/ontology/STY/T047"
    ],
  - "obsolete": false,
  - -
    "subClassOf": [
    - "http://purl.bioontology.org/ontology/SNOMEDCT/116021002"
    ],
  - "notation": "26513001",
  - "label": [ ],
  - "prefixIRI": null,
  - "xref": null,
  - "created": null,
  - "modified": null,
  - "@id": "http://purl.bioontology.org/ontology/SNOMEDCT/26513001",
  - "@type": "http://www.w3.org/2002/07/owl#Class",
  - -
    "links": {
    },
  - -
    "@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"
    }
  },
- -
  {
  - "id": "http://purl.bioontology.org/ontology/SNOMEDCT/84618009",
  - "prefLabel": "Disorder of propionate AND/OR methylmalonate metabolism",
  - -
    "synonym": [
    - "Disorder of propionate AND/OR methylmalonate metabolism (disorder)"
    ],
  - "definition": [ ],
  - -
    "cui": [
    - "C0268578"
    ],
  - -
    "semanticType": [
    - "http://purl.bioontology.org/ontology/STY/T047"
    ],
  - "obsolete": false,
  - -
    "subClassOf": [
    - "http://purl.bioontology.org/ontology/SNOMEDCT/116021002"
    ],
  - "notation": "84618009",
  - "label": [ ],
  - "prefixIRI": null,
  - "xref": null,
  - "created": null,
  - "modified": null,
  - "@id": "http://purl.bioontology.org/ontology/SNOMEDCT/84618009",
  - "@type": "http://www.w3.org/2002/07/owl#Class",
  - -
    "links": {
    },
  - -
    "@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"
    }
  }
],
"notation": "42393006",
"label": [ ],
"prefixIRI": null,
"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": [
  - "42393006"
  ],
- -
  "http://www.w3.org/2004/02/skos/core#altLabel": [
  - "Methylmalonic acidaemia",
  - "MMA - Methylmalonic aciduria",
  - "Methylmalonic acidemia (disorder)"
  ],
- -
  "http://purl.bioontology.org/ontology/SNOMEDCT/EFFECTIVE_TIME": [
  - "20020131"
  ],
- -
  "http://purl.bioontology.org/ontology/SNOMEDCT/ACTIVE": [
  - "1"
  ],
- -
  "http://www.w3.org/2004/02/skos/core#prefLabel": [
  - "Methylmalonic acidemia"
  ],
- -
  "http://purl.bioontology.org/ontology/SNOMEDCT/associated_finding_of": [
  - "http://purl.bioontology.org/ontology/SNOMEDCT/64131000119105"
  ],
- -
  "http://www.w3.org/2000/01/rdf-schema#subClassOf": [
  ],
- -
  "http://bioportal.bioontology.org/ontologies/umls/hasSTY": [
  - "http://purl.bioontology.org/ontology/STY/T047"
  ],
- -
  "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": [
  - "6011000124106~MAPTARGET~E71.120",
  - "6011000124106~MAPRULE~IFA 80887004 | Inherited methylmalonic acidemia AND homocystinuria (disorder) |",
  - "447562003~MAPRULE~TRUE",
  - "6011000124106~MAPRULE~IFA 715338007 | Fatal infantile lactic acidosis with methylmalonic aciduria | AND IFA 445518008 | Age at onset of clinical finding (observable entity) | < 29.0 days",
  - "6011000124106~MAPPRIORITY~4",
  - "6011000124106~MAPADVICE~IF FATAL INFANTILE LACTIC ACIDOSIS CO-OCCURRENT WITH METHYLMALONIC ACIDURIA CHOOSE E71.120 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT",
  - "6011000124106~MAPADVICE~IF FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA CHOOSE E71.120 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT",
  - "6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA",
  - "900000000000497000~MAPTARGET~X40Ss",
  - "6011000124106~MAPTARGET~",
  - "6011000124106~MAPCATEGORYID~447638001",
  - "6011000124106~MAPGROUP~1",
  - "6011000124106~MAPGROUP~2",
  - "6011000124106~MAPADVICE~IF INHERITED METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA CHOOSE E72.11 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT",
  - "6011000124106~MAPTARGET~E71.19",
  - "900000000000508004~ACCEPTABILITYID~900000000000549004",
  - "6011000124106~MAPRULE~IFA 715338007 | Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder) | AND IFA 445518008 | Age at onset of clinical finding (observable entity) | < 29.0 days",
  - "447562003~MAPGROUP~1",
  - "447562003~MAPTARGET~E71.1",
  - "447562003~CORRELATIONID~447561005",
  - "6011000124106~MAPCATEGORYID~447637006",
  - "900000000000509007~ACCEPTABILITYID~900000000000548007",
  - "900000000000508004~ACCEPTABILITYID~900000000000548007",
  - "6011000124106~MAPADVICE~ALWAYS E71.120 | DESCENDANTS NOT EXHAUSTIVELY MAPPED",
  - "6011000124106~MAPADVICE~IF COMBINED MALONIC AND METHYLMALONIC ACIDURIA CHOOSE E71.19 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT",
  - "6011000124106~MAPRULE~IFA 715338007 | Fatal infantile lactic acidosis with methylmalonic aciduria |",
  - "6011000124106~MAPRULE~IFA 702365002 | Combined malonic and methylmalonic aciduria (disorder) |",
  - "6011000124106~MAPADVICE~IF FATAL INFANTILE LACTIC ACIDOSIS CO-OCCURRENT WITH METHYLMALONIC ACIDURIA AND IF AGE AT ONSET OF CLINICAL FINDING BEFORE 29.0 DAYS CHOOSE P84 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT",
  - "447562003~MAPPRIORITY~1",
  - "6011000124106~MAPTARGET~E72.11",
  - "447562003~MAPCATEGORYID~447637006",
  - "6011000124106~MAPRULE~OTHERWISE TRUE",
  - "6011000124106~MAPADVICE~IF FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA CHOOSE E87.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT",
  - "6011000124106~MAPADVICE~IF FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA AND IF AGE AT ONSET OF CLINICAL FINDING BEFORE 29.0 DAYS CHOOSE P84 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT",
  - "6011000124106~MAPCATEGORYID~447639009",
  - "447562003~MAPADVICE~ALWAYS E71.1",
  - "6011000124106~MAPTARGET~P84",
  - "6011000124106~MAPRULE~IFA 80887004 | Inherited methylmalonic acidemia AND homocystinuria |",
  - "6011000124106~MAPRULE~IFA 702365002 | Combined malonic and methylmalonic aciduria |",
  - "6011000124106~MAPPRIORITY~1",
  - "6011000124106~CORRELATIONID~447561005",
  - "6011000124106~MAPRULE~TRUE",
  - "6011000124106~MAPRULE~IFA 715338007 | Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder) |",
  - "6011000124106~MAPADVICE~IF FATAL INFANTILE LACTIC ACIDOSIS CO-OCCURRENT WITH METHYLMALONIC ACIDURIA CHOOSE E87.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT",
  - "6011000124106~MAPPRIORITY~3",
  - "900000000000509007~ACCEPTABILITYID~900000000000549004",
  - "6011000124106~MAPPRIORITY~2",
  - "6011000124106~MAPADVICE~ALWAYS E71.120",
  - "6011000124106~MAPTARGET~E87.2"
  ],
- -
  "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": [
  - "X40Ss"
  ],
- -
  "http://bioportal.bioontology.org/ontologies/umls/cui": [
  - "C0268583"
  ]
},
"@id": "http://purl.bioontology.org/ontology/SNOMEDCT/42393006",
"@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%2F42393006",
- "ontology": "https://data.bioontology.org/ontologies/SNOMEDCT",
- "children": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F42393006/children",
- "parents": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F42393006/parents",
- "descendants": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F42393006/descendants",
- "ancestors": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F42393006/ancestors",
- "instances": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F42393006/instances",
- "tree": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F42393006/tree",
- "notes": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F42393006/notes",
- "mappings": "https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F42393006/mappings",
- "ui": "http://bioportal.bioontology.org/ontologies/SNOMEDCT?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F42393006",
- -
  "@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"
}

}