| Niveau/ Type |
Code |
Weergavenaam |
Codesysteem |
| 0‑S |
88425004
|
congenitale misvorming van zenuwstelsel (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
89369001
|
anencefalie (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
1829003
|
microcefalie (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
76916001
|
spina bifida occulta (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
414667000
|
meningomyelocele (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
171131006
|
meningocele (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
55999004
|
encephalocele (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
30023002
|
hydranencefalie (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
47032000
|
congenitale hydrocefalus (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
30915001
|
holoprosencefalie (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
4945003
|
polymicrogyrie (aandoening)
|
SNOMED Clinical Terms |
| 0‑S |
9904008
|
congenitale afwijking van tractus circulatorius (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
204470001
|
enkele navelstrengarterie (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
30288003
|
ventrikelseptumdefect (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
61959006
|
truncus arteriosus communis (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
204296002
|
discordante ventriculoarteriële verbinding (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
86299006
|
tetralogie van Fallot (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
45503006
|
monoventrikel (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
7484005
|
'double-outlet' rechter ventrikel (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
360481003
|
gemeenschappelijk atrioventriculair kanaal (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
253591008
|
pulmonale atresie met ventrikelseptumdefect (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
63042009
|
tricuspidalisklepatresie (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
62067003
|
hypoplastisch-linkerhartsyndroom (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
218728005
|
onderbroken aortaboog (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
111323005
|
abnormale volledige verbinding van venae pulmonales (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
281587000
|
pentalogie van Cantrell (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
7305005
|
aortacoarctatie (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
4374004
|
congenitale misvorming van tricuspidalisklep (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
94702005
|
multipele congenitale hartdefecten (aandoening)
|
SNOMED Clinical Terms |
| 0‑S |
95470009
|
congenitale afwijking van tractus digestivus (aandoening)
|
SNOMED Clinical Terms |
| 1‑S |
449790007
|
cheilognathopalatoschisis (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
87979003
|
palatoschisis (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
80281008
|
cheiloschisis (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
77414002
|
cheilognathoschisis (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
66948001
|
cheilopalatoschisis (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
337471007
|
schisis van bovenlip, bovenkaak en palatum (aandoening)
|
SNOMED Clinical Terms |
| 1‑S |
69771008
|
congenitale misvorming van oesofagus (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
60983006
|
congenitale tracheo-oesofageale fistel (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
26179002
|
congenitale atresie van oesofagus (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
204659003
|
oesofagusatresie met tracheo-oesofageale fistel (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
93032003
|
congenitale atresie van darm (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
84296002
|
congenitale atresie van dunne darm (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
51118003
|
duodenumatresie (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
360491009
|
atresie van jejunum (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
25896009
|
atresie van ileum (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
37054000
|
colonatresie (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
204711007
|
atresie van dikke darm (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
33225004
|
anorectale malformatie (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
204712000
|
congenitale atresie van anus (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
204739008
|
ziekte van Hirschsprung (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
29980002
|
congenitale malrotatie van darm (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
9707006
|
intestinale volvulus (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
18735004
|
omfalocele (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
72951007
|
gastroschisis (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
77480004
|
atresie van galwegen (aandoening)
|
SNOMED Clinical Terms |
| 0‑S |
287085006
|
congenitale afwijking van tractus urogenitalis (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
41962002
|
syndroom van Potter (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
82525005
|
congenitale polycysteuze nierziekte (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
204949001
|
dysplasie van nier (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
28770003
|
autosomaal recessieve polycysteuze nierziekte (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
765330003
|
autosomaal dominante polycysteuze nierziekte (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
7163005
|
obstructie van urinewegen (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
61758007
|
exstrofie van blaas (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
416010008
|
hypospadie (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
406476007
|
epispadie (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
204878001
|
niet-ingedaalde testis (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
39179006
|
stoornis in geslachtelijke ontwikkeling (aandoening)
|
SNOMED Clinical Terms |
| 0‑S |
74345006
|
congenitale aandoening door chromosoomafwijking (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
21111006
|
trisomie 13 (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
51500006
|
trisomie 18 (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
41040004
|
Down-syndroom (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
66651005
|
syndroom door triploïdie (aandoening)
|
SNOMED Clinical Terms |
| 0‑S |
275260000
|
congenitale afwijking van ademhalingsstelsel (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
53189005
|
congenitale atresie van trachea (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
111318005
|
congenitale cysteuze adenomatoïde malformatie van long (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
204508009
|
choanale atresie (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
14532008
|
congenitale malformatie van trachea (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
80825009
|
congenitale hypoplasie van long (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
66987001
|
congenitaal lobair emfyseem (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
111318005
|
congenitale cysteuze adenomatoïde malformatie van long (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
79231000
|
hydrothorax (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
83035003
|
chylothorax (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
21524000
|
relaxatie van diafragma (aandoening)
|
SNOMED Clinical Terms |
| 0‑L |
17101000146103
|
congenitale neuromusculaire afwijking (aandoening)
|
SNOMED Clinical Terms |
| 0‑S |
19416009
|
congenitale afwijking van oog (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
61142002
|
microftalmie (aandoening)
|
SNOMED Clinical Terms |
| 0‑L |
275259005
|
congenitale malformatie van oor (aandoening)
|
SNOMED Clinical Terms |
| 0‑S |
199879009
|
congenitale misvorming van huid (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
93471006
|
hemangioom van huid (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
398943008
|
naevus naevocellularis van huid (aandoening)
|
SNOMED Clinical Terms |
| 0‑S |
81336004
|
congenitale afwijking van buikwand (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
18735004
|
omfalocele (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
429200006
|
congenitale hernia inguinalis (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
72951007
|
gastroschisis (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
396347007
|
hernia umbilicalis (aandoening)
|
SNOMED Clinical Terms |
| 0‑S |
73573004
|
congenitale afwijking van bewegingsstelsel (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
105986008
|
skeletdysplasie (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
367506006
|
polydactylie (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
373413006
|
syndactylie (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
302297009
|
congenitale deformiteit van voet (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
45806008
|
reductiedefect van bovenste extremiteit (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
77595004
|
congenitaal lengtedefect van gehele onderste extremiteit (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
36172001
|
congenitale subluxatie van heup (aandoening)
|
SNOMED Clinical Terms |
| 0‑S |
276654001
|
congenitale malformatie (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
17190001
|
congenitale hernia diaphragmatica (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
276508000
|
hydrops foetalis (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
59566000
|
oligohydramnion (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
240104008
|
congenitale myotone dystrofie (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
41337007
|
Siamese tweeling (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
276720006
|
dysmorfie (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
43876007
|
situs inversus viscerum (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
82354003
|
malformatiesyndroom met betrokkenheid van meerdere systemen (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
400038003
|
congenitaal malformatiesyndroom (aandoening)
|
SNOMED Clinical Terms |
| 0‑L |
217710005
|
congenitale-jodiumdeficiëntiesyndroom (aandoening)
|
SNOMED Clinical Terms |
| 0‑L |
151801000146100
|
congenitaal maligne neoplasma (aandoening)
|
SNOMED Clinical Terms |
| 0‑S |
86095007
|
aangeboren defect van stofwisseling (aandoening)
|
SNOMED Clinical Terms |
| 1‑S |
20957000
|
stoornis van koolhydraatmetabolisme (aandoening)
|
SNOMED Clinical Terms |
| 2‑S |
29633007
|
glycogeenstapelingsziekte (aandoening)
|
SNOMED Clinical Terms |
| 3‑L |
7265005
|
glycogeenstapelingsziekte type 1 (aandoening)
|
SNOMED Clinical Terms |
| 3‑L |
444707001
|
glycogeenstapelingsziekte type 1a (aandoening)
|
SNOMED Clinical Terms |
| 3‑L |
30102006
|
glycogeenstapelingsziekte type 1b (aandoening)
|
SNOMED Clinical Terms |
| 3‑L |
274864009
|
glycogeenstapelingsziekte type II (aandoening)
|
SNOMED Clinical Terms |
| 3‑L |
66937008
|
glycogeenstapelingsziekte type 3 (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
190745006
|
galactosemie (aandoening)
|
SNOMED Clinical Terms |
| 1‑S |
190694001
|
stoornis van aminozuurmetabolisme (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
7573000
|
klassieke fenylketonurie (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
85020001
|
cystinurie (aandoening)
|
SNOMED Clinical Terms |
| 2‑S |
190694001
|
tyrosinemie (aandoening)
|
SNOMED Clinical Terms |
| 3‑L |
410056006
|
tyrosinemie type 1 (aandoening)
|
SNOMED Clinical Terms |
| 3‑L |
4887000
|
tyrosinemie type 2 (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
11282001
|
homocystinurie (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
13144005
|
3-methylcrotonylglycinurie (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
76175005
|
glutaaracidurie type 1 (aandoening)
|
SNOMED Clinical Terms |
| 1‑S |
116021002
|
stoornis van metabolisme van organisch zuur (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
69080001
|
propionacidurie (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
42393006
|
methylmalonzuuracidemie (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
87827003
|
deficiëntie van isovaleryl-co-enzym A-dehydrogenase (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
27718001
|
maple syrup urine disease (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
28987007
|
glutaaracidurie (aandoening)
|
SNOMED Clinical Terms |
| 3‑L |
76175005
|
glutaaracidurie type 1 (aandoening)
|
SNOMED Clinical Terms |
| 3‑L |
22886006
|
glutaaracidurie type 2 (aandoening)
|
SNOMED Clinical Terms |
| 3‑L |
124611007
|
deficiëntie van hydroxymethylglutaryl-co-enzyme-A-lyase (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
36444000
|
stoornis van metabolisme van ureumcyclus (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
80908008
|
deficiëntie van ornithinecarbamoyltransferase (aandoening)
|
SNOMED Clinical Terms |
| 1‑S |
39929009
|
stoornis van vetzuurmetabolisme (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
128596003
|
deficiëntie van middenketenacyl-co-enzym A-dehydrogenase (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
307127004
|
geïsoleerde deficiëntie van langeketen-hydroxyacyl-co-enzym A-dehydrogenase (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
237997005
|
deficiëntie van zeerlangeketen-acyl-co-enzym-A-dehydrogenase (aandoening)
|
SNOMED Clinical Terms |
| 1‑S |
23585005
|
lysosomale enzymafwijking (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
11380006
|
mucopolysacharidose (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
43916004
|
mucopolysacharidose type 7 (aandoening)
|
SNOMED Clinical Terms |
| 2‑S |
190794006
|
ziekte van Gaucher (aandoening)
|
SNOMED Clinical Terms |
| 1‑S |
240096000
|
mitochondriale cytopathie (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
237988006
|
ademhalingsketen-complex-1-deficiëntie (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
237989003
|
ademhalingsketen-complex-2-deficiëntie (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
237990007
|
ademhalingsketen-complex-3-deficiëntie (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
67434000
|
ademhalingsketen-complex-4-deficiëntie (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
16851005
|
mitochondriale myopathie (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
39925003
|
mitochondriale encefalomyopathie met lactaatacidose en stroke-like episodes (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
238059005
|
stoornis van peroxisomale functie (aandoening)
|
SNOMED Clinical Terms |
| 1‑S |
238006008
|
stoornis van purine- en pyrimidinemetabolisme (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
124275001
|
deficiëntie van hypoxanthinefosforibosyltransferase (aandoening)
|
SNOMED Clinical Terms |
| 1‑S |
45744005
|
stoornis van mineraalstofwisseling (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
79886009
|
stoornis van kopermetabolisme (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
30913008
|
stoornis van ijzermetabolisme (aandoening)
|
SNOMED Clinical Terms |
| 3‑L |
399187006
|
hemochromatose (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
46727001
|
stoornis van zinkmetabolisme (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
59178007
|
Menke's kroeshaarsyndroom (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
238049009
|
congenitaal defect in glycosylering (aandoening)
|
SNOMED Clinical Terms |
| 1‑S |
85670002
|
vitaminedeficiëntie (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
386080007
|
pyridoxinedeficiëntie (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
190634004
|
cobalaminedeficiëntie (aandoening)
|
SNOMED Clinical Terms |
| 2‑L |
8808004
|
biotinidasedeficiëntie (aandoening)
|
SNOMED Clinical Terms |
| 3‑L |
360369003
|
deficiëntie van holocarboxylasesynthase (aandoening)
|
SNOMED Clinical Terms |
| 1‑L |
1821000146108
|
hereditaire stoornis van metabolisme (aandoening)
|
SNOMED Clinical Terms |
|
| 0‑L |
NI
|
geen informatie
|
Null Flavor |
| 0‑L |
OTH
|
overig
|
Null Flavor |
| 0‑L |
UNK
|
onbekend
|
Null Flavor |
Waardelijst ProbleemNaam CongenitaleAfwijking Pediatrie 2020‑08‑24 13:39:56
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