| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Trisomy 22 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Whole chromosome trisomy, meiotic nondisjunction |
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 |
|
| Turner's phenotype, mosaicism 45, X; 46, XX or 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 spleen |
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 |
|
| Diaxial (double) monster |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Fetal alcohol syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Fetal or neonatal effect of maternal use of alcohol |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Single monster, specified type |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital malformation syndromes affecting facial appearance |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Cyclops |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Whistling face syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital malformation syndromes involving limbs |
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 |
|
| Congenital malformation syndromes with metabolic disturbances |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Biemond's syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| VATER association |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Ullrich-Feichtiger syndrome, chimera |
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 |
|
| Acephalothorax |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Anomalies of umbilicus |
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 |
| Kernicterus not due to isoimmunization |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital anemia from fetal blood loss |
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 |
|
| Suspect fetal damage from maternal alcohol |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Suspect fetal damage from maternal toxoplasmosis |
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 |
|
| Suspect cystic fibrosis fetus |
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 |
|
| Suspect fetal anencephaly |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Bicornuate uterus complicating postpartum care - baby delivered during previous episode of care |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Bicornuate uterus complicating antenatal care, baby not yet delivered |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Bicornuate uterus - baby delivered with postpartum complication |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Bicornuate uterus - baby delivered |
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 |
|
| Autosomal dominant mutilating keratoderma |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Nevus atrophicus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Preauricular sinus, pit or fistula |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Multiple exostosis syndromes |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Osteochondrodysplasia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Aortic root congenital abnormality |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Sinus pericranii |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital endaural hernia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital cerebral hernia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Hydroencephalocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Thoracolumbar spina bifida without hydrocephalus - closed |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
| Fissured spine |
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 with hydrocephalus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Fissured spine with hydrocephalus |
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 |
|
| Arachnoid / ependymal cyst |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Mermaid sirenomelia |
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 |
|
| Congenital blocked tear duct |
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 |
|