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draft Waardelijst ProbleemNaam_AangeborenAfwijkingenSyndromen 2018‑08‑10 02:17:56

Id 2.16.840.1.113883.2.4.3.11.60.90.77.11.222 Ingangsdatum 2018‑08‑10 02:17:56
Status draft Ontwerp Versielabel
Naam ProbleemNaam_AangeborenAfwijkingenSyndromen Weergavenaam ProbleemNaam_AangeborenAfwijkingenSyndromen
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2 bron codesystemen
2.16.840.1.113883.6.96 - SNOMED CT - http://snomed.info/sct
2.16.840.1.113883.2.4.4.13.8 - CongenitaleAfwijkingen - urn:oid:2.16.840.1.113883.2.4.4.13.8
Niveau/ Type Code Weergavenaam Codesysteem Benamingen Omschrijving
0‑A
88425004
Congenital anomaly of nervous system (disorder)
SNOMED CT Aangeboren afwijkingen centraal zenuwstelsel
1‑L
89369001
Anencephalus (disorder)
SNOMED CT
1‑L
414667000
Meningomyelocele (disorder)
SNOMED CT
1‑L
30023002
Hydranencephaly (disorder)
SNOMED CT
1‑L
47032000
Congenital hydrocephalus (disorder)
SNOMED CT
1‑L
30915001
Holoprosencephaly sequence (disorder)
SNOMED CT
1‑L
4945003
Microgyria (disorder)
SNOMED CT
1‑L
09
Overige congenitale afwijkingen zenuwstelsel
CongenitaleAfwijkingen
0‑A
9904008
Congenital anomaly of cardiovascular system (disorder)
SNOMED CT Aangeboren hartafwijkingen
1‑L
61959006
Common truncus arteriosus (disorder)
SNOMED CT
1‑L
204296002
Discordant ventriculoarterial connection (disorder)
SNOMED CT
1‑L
86299006
Tetralogy of Fallot (disorder)
SNOMED CT
1‑L
45503006
Common ventricle (disorder)
SNOMED CT
1‑L
7484005
Double outlet right ventricle (disorder)
SNOMED CT
1‑L
360481003
Common atrioventricular canal (disorder)
SNOMED CT
1‑L
253591008
Pulmonary atresia with ventricular septal defect (disorder)
SNOMED CT
1‑L
63042009
Congenital atresia of tricuspid valve (disorder)
SNOMED CT
1‑L
62067003
Hypoplastic left heart syndrome (disorder)
SNOMED CT
1‑L
218728005
Interrupted aortic arch (disorder)
SNOMED CT
1‑L
111323005
Total anomalous pulmonary venous return (disorder)
SNOMED CT
1‑L
281587000
Pentalogy of Cantrell (disorder)
SNOMED CT
1‑L
7305005
Coarctation of aorta (disorder)
SNOMED CT
1‑L
22
Overige congenitale afwijking hart en bloedvaten
CongenitaleAfwijkingen
0‑A
95470009
Congenital anomaly of digestive tract (disorder)
SNOMED CT Aangeboren afwijkingen tractus digestivus
1‑L
87979003
Cleft palate (disorder)
SNOMED CT
1‑L
60983006
Congenital esophagotracheal fistula (disorder)
SNOMED CT
1‑L
26179002
Congenital atresia of esophagus (disorder)
SNOMED CT
1‑L
204659003
Esophageal atresia with tracheoesophageal fistula (disorder)
SNOMED CT
1‑L
51118003
Congenital atresia of duodenum (disorder)
SNOMED CT
1‑L
360491009
atresie van jejunum (aandoening)
SNOMED CT
1‑L
25896009
atresie van ileum (aandoening)
SNOMED CT
1‑L
37054000
Congenital atresia of colon (disorder)
SNOMED CT
1‑L
33225004
Anorectal anomaly (disorder)
SNOMED CT
1‑L
18735004
omfalocele (aandoening)
SNOMED CT
1‑L
72951007
gastroschisis (aandoening)
SNOMED CT
1‑L
77480004
Congenital biliary atresia (disorder)
SNOMED CT
1‑L
30
Overige congenitale afwijking tractus digestivus
CongenitaleAfwijkingen
0‑A
287085006
Genitourinary congenital anomalies (disorder)
SNOMED CT Aangeboren afwijkingen tractus urogenitalis
1‑L
41962002
Oligohydramnios sequence (disorder)
SNOMED CT
1‑S
204949001
Renal dysplasia (disorder)
SNOMED CT
2‑L
28770003
Polycystic kidney disease, infantile type (disorder)
SNOMED CT
2‑L
28728008
Polycystic kidney disease, adult type (disorder)
SNOMED CT
1‑L
7163005
obstructieve uropathie (aandoening)
SNOMED CT
1‑L
61758007
Exstrophy of bladder sequence (disorder)
SNOMED CT
1‑L
69
Overige congenitale afwijking tractus urogenitalis
CongenitaleAfwijkingen
0‑A
409709004
Chromosomal disorder (disorder)
SNOMED CT Chromosomale afwijkingen 
1‑L
21111006
Complete trisomy 13 syndrome (disorder)
SNOMED CT
1‑L
51500006
syndroom van Edwards (aandoening)
SNOMED CT
1‑L
41040004
Complete trisomy 21 syndrome (disorder)
SNOMED CT
1‑L
74345006
Congenital disorder due to abnormality of chromosome number OR structure (disorder)
SNOMED CT
1‑L
66651005
Triploidy syndrome (disorder)
SNOMED CT
1‑L
400038003
Congenital malformation syndrome (disorder)
SNOMED CT
0‑A
276654001
Congenital malformation (disorder
SNOMED CT Andere aangeboren afwijkingen 
1‑L
105986008
Congenital skeletal dysplasia (disorder)
SNOMED CT
1‑L
17190001
Congenital diaphragmatic hernia (disorder)
SNOMED CT
1‑L
276508000
Hydrops fetalis (disorder)
SNOMED CT
1‑L
59566000
Oligohydramnios (disorder)
SNOMED CT
1‑L
240104008
Congenital myotonic dystrophy (disorder)
SNOMED CT
1‑L
41337007
Conjoined twins (disorder)
SNOMED CT
1‑L
53189005
Congenital atresia of trachea (disorder)
SNOMED CT
0‑A
275260000
Congenital malformation of the respiratory system (disorder)
SNOMED CT Aangeboren afwijkingen luchtwegen
1‑L
111318005
Congenital cystic adenomatoid malformation of lung (disorder)
SNOMED CT
1‑L
204508009
Choanal atresia (disorder)
SNOMED CT
1‑L
38
Overige congenitale afwijking tractus respiratorius
CongenitaleAfwijkingen

Legenda: Type L=leaf, S=specializable, A=abstract, D=deprecated. NullFlavors komen in het attribuut @nullFlavor in plaats van in @code.
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