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 |
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 |
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 |
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 |
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 |
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 |
|
Suspected fetal damage from maternal rubella (situation) |
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 (disorder) |
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 (disorder) |
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 (disorder) |
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 |
|