{
"description": "Congenitale afwijking",
"compose": {
"include": [ {
"system": "http://snomed.info/sct",
"concept": [ {
"code": "276508000",
"display": "Hydrops foetalis"
}, {
"code": "88425004",
"display": "congenitale misvorming van zenuwstelsel (aandoening)"
}, {
"code": "609417004",
"display": "foetale anencefalie (aandoening)"
}, {
"code": "431265009",
"display": "microcefalie bij foetus (aandoening)"
}, {
"code": "76916001",
"display": "spina bifida occulta (aandoening)"
}, {
"code": "414667000",
"display": "meningomyelocele (aandoening)"
}, {
"code": "171131006",
"display": "meningocele (aandoening)"
}, {
"code": "47032000",
"display": "congenitale hydrocefalus (aandoening)"
}, {
"code": "30915001",
"display": "holoprosencefalie (aandoening)"
}, {
"code": "55999004",
"display": "encephalocele (aandoening)"
}, {
"code": "363222009",
"display": "neonatale neuromusculaire aandoening (aandoening)"
}, {
"code": "19416009",
"display": "congenitale afwijking van oog (aandoening)"
}, {
"code": "61142002",
"display": "microftalmie (aandoening)"
}, {
"code": "275259005",
"display": "congenitale malformatie van oor (aandoening)"
}, {
"code": "9904008",
"display": "congenitale afwijking van tractus circulatorius (aandoening)"
}, {
"code": "204470001",
"display": "enkele navelstrengarterie (aandoening)"
}, {
"code": "204296002",
"display": "discordante ventriculoarteriële verbinding (aandoening)"
}, {
"code": "86299006",
"display": "tetralogie van Fallot (aandoening)"
}, {
"code": "30288003",
"display": "ventrikelseptumdefect (aandoening)"
}, {
"code": "62067003",
"display": "hypoplastisch-linkerhartsyndroom (aandoening)"
}, {
"code": "7305005",
"display": "aortacoarctatie (aandoening)"
}, {
"code": "4374004",
"display": "congenitale misvorming van tricuspidalisklep (aandoening)"
}, {
"code": "94702005",
"display": "multipele congenitale hartdefecten (aandoening)"
}, {
"code": "95470009",
"display": "congenitale afwijking van tractus digestivus (aandoening)"
}, {
"code": "80281008",
"display": "cheiloschisis (aandoening)"
}, {
"code": "87979003",
"display": "palatoschisis (aandoening)"
}, {
"code": "69771008",
"display": "congenitale misvorming van oesofagus (aandoening)"
}, {
"code": "84296002",
"display": "congenitale atresie van dunne darm (aandoening)"
}, {
"code": "204711007",
"display": "atresie van dikke darm (aandoening)"
}, {
"code": "204712000",
"display": "congenitale atresie van anus (aandoening)"
}, {
"code": "204739008",
"display": "ziekte van Hirschsprung (aandoening)"
}, {
"code": "29980002",
"display": "congenitale malrotatie van darm (aandoening)"
}, {
"code": "9707006",
"display": "intestinale volvulus (aandoening)"
}, {
"code": "77868001",
"display": "Congenital anomaly of respiratory system (disorder)"
}, {
"code": "204508009",
"display": "choanale atresie (aandoening)"
}, {
"code": "14532008",
"display": "congenitale malformatie van trachea (aandoening)"
}, {
"code": "80825009",
"display": "congenitale hypoplasie van long (aandoening)"
}, {
"code": "66987001",
"display": "congenitaal lobair emfyseem (aandoening)"
}, {
"code": "111318005",
"display": "congenitale cysteuze adenomatoïde malformatie van long (aandoening)"
}, {
"code": "79231000",
"display": "hydrothorax (aandoening)"
}, {
"code": "83035003",
"display": "chylothorax (aandoening)"
}, {
"code": "17190001",
"display": "congenitale hernia diaphragmatica (aandoening)"
}, {
"code": "21524000",
"display": "relaxatie van diafragma (aandoening)"
}, {
"code": "287085006",
"display": "congenitale afwijking van tractus urogenitalis (aandoening)"
}, {
"code": "416010008",
"display": "hypospadie (aandoening)"
}, {
"code": "406476007",
"display": "epispadie (aandoening)"
}, {
"code": "204878001",
"display": "niet-ingedaalde testis (aandoening)"
}, {
"code": "61758007",
"display": "exstrofie van blaas (aandoening)"
}, {
"code": "41962002",
"display": "syndroom van Potter (aandoening)"
}, {
"code": "82525005",
"display": "congenitale polycysteuze nierziekte (aandoening)"
}, {
"code": "7163005",
"display": "obstructie van urinewegen (aandoening)"
}, {
"code": "39179006",
"display": "stoornis in geslachtelijke ontwikkeling (aandoening)"
}, {
"code": "199879009",
"display": "congenitale misvorming van huid (aandoening)"
}, {
"code": "93471006",
"display": "hemangioom van huid (aandoening)"
}, {
"code": "398943008",
"display": "naevus naevocellularis van huid (aandoening)"
}, {
"code": "81336004",
"display": "congenitale afwijking van buikwand (aandoening)"
}, {
"code": "72951007",
"display": "gastroschisis (aandoening)"
}, {
"code": "18735004",
"display": "omfalocele (aandoening)"
}, {
"code": "396347007",
"display": "hernia umbilicalis (aandoening)"
}, {
"code": "429200006",
"display": "congenitale hernia inguinalis (aandoening)"
}, {
"code": "73573004",
"display": "congenitale afwijking van bewegingsstelsel (aandoening)"
}, {
"code": "367506006",
"display": "polydactylie (aandoening)"
}, {
"code": "373413006",
"display": "syndactylie (aandoening)"
}, {
"code": "302297009",
"display": "congenitale deformiteit van voet (aandoening)"
}, {
"code": "45806008",
"display": "reductiedefect van bovenste extremiteit (aandoening)"
}, {
"code": "77595004",
"display": "congenitaal lengtedefect van gehele onderste extremiteit (aandoening)"
}, {
"code": "36172001",
"display": "congenitale subluxatie van heup (aandoening)"
}, {
"code": "276720006",
"display": "dysmorfie (aandoening)"
}, {
"code": "43876007",
"display": "situs inversus viscerum (aandoening)"
}, {
"code": "444406006",
"display": "Multiple congenital anomalies (disorder)"
}, {
"code": "82354003",
"display": "malformatiesyndroom met betrokkenheid van meerdere systemen (aandoening)"
}, {
"code": "217710005",
"display": "congenitale-jodiumdeficiëntiesyndroom (aandoening)"
}, {
"code": "86095007",
"display": "aangeboren defect van stofwisseling (aandoening)"
}, {
"code": "363346000:246454002=255399007",
"display": "Congenital malignant neoplastic disease (disorder)"
} ]
}, {
"system": "http://hl7.org/fhir/v3/NullFlavor",
"concept": [ {
"code": "OTH",
"display": "Overig"
}, {
"code": "NI",
"display": "Geen informatie"
} ]
}, {
"system": "urn:oid:2.16.840.1.113883.2.4.4.13.8",
"concept": [ {
"code": "09",
"display": "Overige congenitale afwijkingen zenuwstelsel"
}, {
"code": "B",
"display": "Zintuigen"
}, {
"code": "11",
"display": "Overige congenitale afwijkingen ogen"
}, {
"code": "13",
"display": "Overige congenitale afwijkingen zintuigen"
}, {
"code": "22",
"display": "Overige congenitale afwijking hart en bloedvaten"
}, {
"code": "30",
"display": "Overige congenitale afwijking tractus digestivus"
}, {
"code": "38",
"display": "Overige congenitale afwijking tractus respiratorius"
}, {
"code": "69",
"display": "Overige congenitale afwijking tractus urogenitalis"
}, {
"code": "74",
"display": "Overige congenitale huidafwijking"
}, {
"code": "85",
"display": "Overige congenitale afwijking buikwand"
}, {
"code": "96",
"display": "Overige congenitale afwijking extremiteiten"
}, {
"code": "98",
"display": "Overige congenitale afwijking skelet en spierstelsel"
}, {
"code": "J",
"display": "Multipele/syndromale congenitale afwijkingen (niet chromosomaal)"
}, {
"code": "104",
"display": "Overige multipele/syndromale afwijkingen"
}, {
"code": "K",
"display": "Overige congenitale afwijkingen"
}, {
"code": "112",
"display": "Andere endocrinologische afwijkingen"
} ]
} ]
},
"_filename": "CongenitaleAfwijking22-2.16.840.1.113883.2.4.11.196--20191010091229-expand.json",
"package_name": "nictiz.fhir.nl.stu3.geboortezorg",
"date": null,
"meta": {
"profile": [ "http://hl7.org/fhir/StructureDefinition/shareablevalueset" ]
},
"publisher": "KNOV",
"name": "CongenitaleAfwijking22",
"copyright": "This artefact includes content from SNOMED Clinical Terms® (SNOMED CT®) which is copyright of the International Health Terminology Standards Development Organisation (IHTSDO). Implementers of these artefacts must have the appropriate SNOMED CT Affiliate license - for more information contact http://www.snomed.org/snomed-ct/getsnomed-ct or info@snomed.org.",
"type": null,
"experimental": "false",
"resourceType": "ValueSet",
"expansion": {
"total": 93,
"contains": [ {
"code": "276508000",
"system": "http://snomed.info/sct",
"display": "Hydrops foetalis"
}, {
"code": "88425004",
"system": "http://snomed.info/sct",
"display": "congenitale misvorming van zenuwstelsel (aandoening)"
}, {
"code": "609417004",
"system": "http://snomed.info/sct",
"display": "foetale anencefalie (aandoening)"
}, {
"code": "431265009",
"system": "http://snomed.info/sct",
"display": "microcefalie bij foetus (aandoening)"
}, {
"code": "76916001",
"system": "http://snomed.info/sct",
"display": "spina bifida occulta (aandoening)"
}, {
"code": "414667000",
"system": "http://snomed.info/sct",
"display": "meningomyelocele (aandoening)"
}, {
"code": "171131006",
"system": "http://snomed.info/sct",
"display": "meningocele (aandoening)"
}, {
"code": "47032000",
"system": "http://snomed.info/sct",
"display": "congenitale hydrocefalus (aandoening)"
}, {
"code": "30915001",
"system": "http://snomed.info/sct",
"display": "holoprosencefalie (aandoening)"
}, {
"code": "55999004",
"system": "http://snomed.info/sct",
"display": "encephalocele (aandoening)"
}, {
"code": "363222009",
"system": "http://snomed.info/sct",
"display": "neonatale neuromusculaire aandoening (aandoening)"
}, {
"code": "09",
"system": "urn:oid:2.16.840.1.113883.2.4.4.13.8",
"display": "Overige congenitale afwijkingen zenuwstelsel"
}, {
"code": "B",
"system": "urn:oid:2.16.840.1.113883.2.4.4.13.8",
"display": "Zintuigen"
}, {
"code": "19416009",
"system": "http://snomed.info/sct",
"display": "congenitale afwijking van oog (aandoening)"
}, {
"code": "61142002",
"system": "http://snomed.info/sct",
"display": "microftalmie (aandoening)"
}, {
"code": "11",
"system": "urn:oid:2.16.840.1.113883.2.4.4.13.8",
"display": "Overige congenitale afwijkingen ogen"
}, {
"code": "8380000",
"system": "http://snomed.info/sct",
"display": "Congenital anomaly of ear (disorder)",
"inactive": true
}, {
"code": "275259005",
"system": "http://snomed.info/sct",
"display": "congenitale malformatie van oor (aandoening)"
}, {
"code": "13",
"system": "urn:oid:2.16.840.1.113883.2.4.4.13.8",
"display": "Overige congenitale afwijkingen zintuigen"
}, {
"code": "9904008",
"system": "http://snomed.info/sct",
"display": "congenitale afwijking van tractus circulatorius (aandoening)"
}, {
"code": "204470001",
"system": "http://snomed.info/sct",
"display": "enkele navelstrengarterie (aandoening)"
}, {
"code": "204296002",
"system": "http://snomed.info/sct",
"display": "discordante ventriculoarteriële verbinding (aandoening)"
}, {
"code": "86299006",
"system": "http://snomed.info/sct",
"display": "tetralogie van Fallot (aandoening)"
}, {
"code": "30288003",
"system": "http://snomed.info/sct",
"display": "ventrikelseptumdefect (aandoening)"
}, {
"code": "62067003",
"system": "http://snomed.info/sct",
"display": "hypoplastisch-linkerhartsyndroom (aandoening)"
}, {
"code": "7305005",
"system": "http://snomed.info/sct",
"display": "aortacoarctatie (aandoening)"
}, {
"code": "4374004",
"system": "http://snomed.info/sct",
"display": "congenitale misvorming van tricuspidalisklep (aandoening)"
}, {
"code": "94702005",
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"display": "multipele congenitale hartdefecten (aandoening)"
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"code": "22",
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"display": "Overige congenitale afwijking hart en bloedvaten"
}, {
"code": "95470009",
"system": "http://snomed.info/sct",
"display": "congenitale afwijking van tractus digestivus (aandoening)"
}, {
"code": "80281008",
"system": "http://snomed.info/sct",
"display": "cheiloschisis (aandoening)"
}, {
"code": "87979003",
"system": "http://snomed.info/sct",
"display": "palatoschisis (aandoening)"
}, {
"code": "69771008",
"system": "http://snomed.info/sct",
"display": "congenitale misvorming van oesofagus (aandoening)"
}, {
"code": "84296002",
"system": "http://snomed.info/sct",
"display": "congenitale atresie van dunne darm (aandoening)"
}, {
"code": "204711007",
"system": "http://snomed.info/sct",
"display": "atresie van dikke darm (aandoening)"
}, {
"code": "204712000",
"system": "http://snomed.info/sct",
"display": "congenitale atresie van anus (aandoening)"
}, {
"code": "204739008",
"system": "http://snomed.info/sct",
"display": "ziekte van Hirschsprung (aandoening)"
}, {
"code": "29980002",
"system": "http://snomed.info/sct",
"display": "congenitale malrotatie van darm (aandoening)"
}, {
"code": "9707006",
"system": "http://snomed.info/sct",
"display": "intestinale volvulus (aandoening)"
}, {
"code": "30",
"system": "urn:oid:2.16.840.1.113883.2.4.4.13.8",
"display": "Overige congenitale afwijking tractus digestivus"
}, {
"code": "77868001",
"system": "http://snomed.info/sct",
"display": "Congenital anomaly of respiratory system (disorder)"
}, {
"code": "204508009",
"system": "http://snomed.info/sct",
"display": "choanale atresie (aandoening)"
}, {
"code": "14532008",
"system": "http://snomed.info/sct",
"display": "congenitale malformatie van trachea (aandoening)"
}, {
"code": "80825009",
"system": "http://snomed.info/sct",
"display": "congenitale hypoplasie van long (aandoening)"
}, {
"code": "66987001",
"system": "http://snomed.info/sct",
"display": "congenitaal lobair emfyseem (aandoening)"
}, {
"code": "111318005",
"system": "http://snomed.info/sct",
"display": "congenitale cysteuze adenomatoïde malformatie van long (aandoening)"
}, {
"code": "79231000",
"system": "http://snomed.info/sct",
"display": "hydrothorax (aandoening)"
}, {
"code": "83035003",
"system": "http://snomed.info/sct",
"display": "chylothorax (aandoening)"
}, {
"code": "17190001",
"system": "http://snomed.info/sct",
"display": "congenitale hernia diaphragmatica (aandoening)"
}, {
"code": "21524000",
"system": "http://snomed.info/sct",
"display": "relaxatie van diafragma (aandoening)"
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"code": "38",
"system": "urn:oid:2.16.840.1.113883.2.4.4.13.8",
"display": "Overige congenitale afwijking tractus respiratorius"
}, {
"code": "287085006",
"system": "http://snomed.info/sct",
"display": "congenitale afwijking van tractus urogenitalis (aandoening)"
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"code": "416010008",
"system": "http://snomed.info/sct",
"display": "hypospadie (aandoening)"
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"code": "406476007",
"system": "http://snomed.info/sct",
"display": "epispadie (aandoening)"
}, {
"code": "204878001",
"system": "http://snomed.info/sct",
"display": "niet-ingedaalde testis (aandoening)"
}, {
"code": "61758007",
"system": "http://snomed.info/sct",
"display": "exstrofie van blaas (aandoening)"
}, {
"code": "41962002",
"system": "http://snomed.info/sct",
"display": "syndroom van Potter (aandoening)"
}, {
"code": "82525005",
"system": "http://snomed.info/sct",
"display": "congenitale polycysteuze nierziekte (aandoening)"
}, {
"code": "7163005",
"system": "http://snomed.info/sct",
"display": "obstructie van urinewegen (aandoening)"
}, {
"code": "39179006",
"system": "http://snomed.info/sct",
"display": "stoornis in geslachtelijke ontwikkeling (aandoening)"
}, {
"code": "69",
"system": "urn:oid:2.16.840.1.113883.2.4.4.13.8",
"display": "Overige congenitale afwijking tractus urogenitalis"
}, {
"code": "199879009",
"system": "http://snomed.info/sct",
"display": "congenitale misvorming van huid (aandoening)"
}, {
"code": "93471006",
"system": "http://snomed.info/sct",
"display": "hemangioom van huid (aandoening)"
}, {
"code": "398943008",
"system": "http://snomed.info/sct",
"display": "naevus naevocellularis van huid (aandoening)"
}, {
"code": "74",
"system": "urn:oid:2.16.840.1.113883.2.4.4.13.8",
"display": "Overige congenitale huidafwijking"
}, {
"code": "81336004",
"system": "http://snomed.info/sct",
"display": "congenitale afwijking van buikwand (aandoening)"
}, {
"code": "72951007",
"system": "http://snomed.info/sct",
"display": "gastroschisis (aandoening)"
}, {
"code": "18735004",
"system": "http://snomed.info/sct",
"display": "omfalocele (aandoening)"
}, {
"code": "396347007",
"system": "http://snomed.info/sct",
"display": "hernia umbilicalis (aandoening)"
}, {
"code": "429200006",
"system": "http://snomed.info/sct",
"display": "congenitale hernia inguinalis (aandoening)"
}, {
"code": "85",
"system": "urn:oid:2.16.840.1.113883.2.4.4.13.8",
"display": "Overige congenitale afwijking buikwand"
}, {
"code": "73573004",
"system": "http://snomed.info/sct",
"display": "congenitale afwijking van bewegingsstelsel (aandoening)"
}, {
"code": "367506006",
"system": "http://snomed.info/sct",
"display": "polydactylie (aandoening)"
}, {
"code": "373413006",
"system": "http://snomed.info/sct",
"display": "syndactylie (aandoening)"
}, {
"code": "302297009",
"system": "http://snomed.info/sct",
"display": "congenitale deformiteit van voet (aandoening)"
}, {
"code": "45806008",
"system": "http://snomed.info/sct",
"display": "reductiedefect van bovenste extremiteit (aandoening)"
}, {
"code": "77595004",
"system": "http://snomed.info/sct",
"display": "congenitaal lengtedefect van gehele onderste extremiteit (aandoening)"
}, {
"code": "96",
"system": "urn:oid:2.16.840.1.113883.2.4.4.13.8",
"display": "Overige congenitale afwijking extremiteiten"
}, {
"code": "36172001",
"system": "http://snomed.info/sct",
"display": "congenitale subluxatie van heup (aandoening)"
}, {
"code": "98",
"system": "urn:oid:2.16.840.1.113883.2.4.4.13.8",
"display": "Overige congenitale afwijking skelet en spierstelsel"
}, {
"code": "J",
"system": "urn:oid:2.16.840.1.113883.2.4.4.13.8",
"display": "Multipele/syndromale congenitale afwijkingen (niet chromosomaal)"
}, {
"code": "276720006",
"system": "http://snomed.info/sct",
"display": "dysmorfie (aandoening)"
}, {
"code": "43876007",
"system": "http://snomed.info/sct",
"display": "situs inversus viscerum (aandoening)"
}, {
"code": "444406006",
"system": "http://snomed.info/sct",
"display": "Multiple congenital anomalies (disorder)"
}, {
"code": "82354003",
"system": "http://snomed.info/sct",
"display": "malformatiesyndroom met betrokkenheid van meerdere systemen (aandoening)"
}, {
"code": "104",
"system": "urn:oid:2.16.840.1.113883.2.4.4.13.8",
"display": "Overige multipele/syndromale afwijkingen"
}, {
"code": "K",
"system": "urn:oid:2.16.840.1.113883.2.4.4.13.8",
"display": "Overige congenitale afwijkingen"
}, {
"code": "217710005",
"system": "http://snomed.info/sct",
"display": "congenitale-jodiumdeficiëntiesyndroom (aandoening)"
}, {
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