Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Trisomy 22 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
trisomi för hel kromosom, meiotisk icke-disjunktion |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Whole chromosome trisomy, mosaicism |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Partial trisomy syndromes |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Turner's phenotype, karyotype normal (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Turners fenotyp, mosaikism 45, X; 46, XX eller 45, X; 46, XY |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
XY, female phenotype |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Klinefelter's syndrome, XXYY (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Klinefelter's syndrome, XY/XXY mosaic |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Additional sex chromosome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Sex chromosome mosaicism (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Mosaic XO/XY |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Mosaic XO/XX |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Mosaic XY/XXY |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Mosaic including XXXXY |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Duplication of chromosome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
aberrant mjälte |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Hypoplasia of spleen (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Mis-shapen spleen |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Accessory parathyroid gland |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Complete situs inversus with dextrocardia (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Situs inversus with levocardia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Craniopagus frontalis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Craniopagus parasiticus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
diaxialt (dubbelt) missbildat foster |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Fetal alcohol syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
foster eller nyfödd som påverkats av alkoholbruk hos modern |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
enkelt missbildat foster av specificerat slag |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
medfödda missbildningssyndrom som påverkar ansiktets utseende |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Cyclops |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Whistling face syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
medfödda missbildningssyndrom som omfattar extremiteter |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Holt-Oram syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Aglossia-adactyly syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Caudal dysplasia sequence |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Multiple pterygium syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Popliteal pterygium syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
medfödda missbildningssyndrom med störd metabolism |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Biemond's syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
VATER association |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Ullrich-Feichtigers syndrom, chimär |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Acardia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Acephalobrachius |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Acephalogaster |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
acefalotorax |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
anomalier i naveln |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Sepsis of the newborn |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Kernicterus due to isoimmunization |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Late anaemia of newborn due to isoimmunisation |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
kärnikterus ej orsakad av isoimmunisering |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
medfödd anemi efter blodförlust hos foster |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Plantarflexed cuboid |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital arteriovenous fistula of brain |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
misstänkt skada på foster på grund av alkohol via modern |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
misstänkt skada på foster på grund av toxoplasmos hos modern |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Fetus with suspected rubella damage via mother |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Suspect mongol fetus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
misstänkt cystisk fibros hos fostret |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Fetal spina bifida suspected (situation) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Fetal hydrocephalus suspected (situation) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
misstänkt anencefali hos fostret |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
uterus bicornis som komplicerar postpartumvård, barnet framfött under tidigare vårdperiod |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
uterus bicornis som komplicerar mödravården, barnet ännu inte framfött |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
uterus bicornis, barnet framfött med postpartumkomplikation |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
uterus bicornis, barnet framfött |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Bicornuate uterus affecting obstetric care |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Bicornuate uterus in pregnancy, childbirth and the puerperium |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Homogentisic acid defect |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Valinosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Familial hyperlipoproteinaemia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Familial hypolipoproteinaemia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Xanthomatosis, familial |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Very low density lipoprotinemia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
autosomalt dominant mutilerande keratodermi |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Nevus atrophicus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
preaurikulär sinus, grop eller fistel |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Multiple exostosis syndromes |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
osteokondrodysplasi |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Aortic root congenital abnormality |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Sinus pericranii |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
medfött endauralt bråck |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital cerebral hernia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
hydroencefalocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Thoracolumbar spina bifida without hydrocephalus - closed |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
öppen defekt i kotpelaren |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Rachischisis with hydrocephalus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
Myelocele with hydrocephalus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
9 |
hydromyelocele med hydrocefalus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
öppen defekt i kotpelaren med hydrocefalus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Closed spina bifida with Arnold-Chiari malformation |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Thoracolumbar spina bifida with hydrocephalus - closed |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Hydrocephalus with anomaly of aqueduct of Sylvius |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
araknoidal eller ependymal cysta |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
sirenomyelisyndrom |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Hypoplasia of brain gyri |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital malformation of eye, ear and neck |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
medfödd blockering av tårgång |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital lens anomaly |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital stricture of osseous meatus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Vulcan ear |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|