Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Deletions with other complex rearrangements |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Whole chromosome monosomy, mosaicism NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other deletions from the autosomes |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Monosomies and deletions from the autosomes NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other condition due to autosomal anomaly |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other trisomy C syndromes |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other specified whole chromosome trisomy syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Whole chromosome trisomy syndrome NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Partial trisomy syndrome NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Trisomies of autosomes NEC |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Trisomy of autosomes NEC NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Balanced rearrangement or structural marker NEC NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Klinefelter's syndrome NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other sex chromosome anomaly |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Sex chromosome mosaicism NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other sex chromosome abnormality NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Sex chromosome anomaly NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Chromosomal anomalies NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Mosaicism NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Additional chromosome NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Deletion of chromosome NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Conditions due to anomaly of unspecified chromosome NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other and unspecified congenital anomalies |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other specified anomalies of spleen |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anomalies of spleen NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other specified anomalies of adrenal gland |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other congenital anomaly of adrenal gland NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anomalies of adrenal gland NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other endocrine gland anomalies |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anomaly of pituitary gland NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anomalies of thyroid gland NEC |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anomaly of thyroid gland NEC NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anomalies of thyroglossal duct NEC |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anomalies of parathyroid gland NEC |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anomaly of parathyroid gland NEC NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anomaly of thymus gland NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other specified endocrine gland anomaly |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Endocrine gland anomaly NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Situs inversus NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Craniopagus NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other specified conjoined twins |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Conjoined twins NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other hamartoses NEC |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other specified hamartoses NEC |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Hamartoses NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Multiple congenital anomalies NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Monster NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other specified anomalies |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital malformation syndrome affecting facial appearance NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital malformation syndrome involving limbs NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital malformation syndromes with other skeletal changes |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital malformation syndrome with other skeletal changes NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital malformation syndrome with metabolic disturbance NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other anomalies NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Embryopathia NEC |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other specified congenital anomaly |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Additional congenital disease classification terms |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Congenital malformations of the nervous system |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Encephalocele of other sites |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Other congenital hydrocephalus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Other reduction deformities of brain |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Other specified congenital malformations of brain |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Unspecified spina bifida with hydrocephalus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Other congenital cauda equina malformations |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Other specified congenital malformations of spinal cord |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Other specified congenital malformations of nervous system |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Congenital malformations of eye, ear, face and neck |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Other congenital malformations of eyelid |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Other congenital malformations of lacrimal apparatus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Other anophthalmos |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Other congenital lens malformations |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Other congenital malformations of iris |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Other congenital corneal malformations |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Other congenital malformations of anterior segment of eye |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Other congenital malformations of posterior segment of eye |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Other specified congenital malformations of eye |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Other congenital malformations of middle ear |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Congenital malformation of inner ear |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Hypoplastic left heart syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
[X]Malformation of ear with impairment of hearing, unspecified |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Turner's tooth |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
[X]Other mis-shapen ear |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Other specified congenital malformations of ear |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Ocular albinism with congenital sensorineural deafness |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Ocular albinism with congenital sensorineural deafness |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Ocular albinism with congenital sensorineural deafness |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
[X]Other branchial cleft malformations |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
[X]Other specified congenital malformations of face and neck |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Congenital malformations of the circulatory system |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital chronic diarrhoea with protein-losing enteropathy |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
[X]Other congenital malformations of cardiac chambers and connections |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Other congenital malformations of cardiac septa |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Incomplete ossification of skull |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Incomplete ossification of ischium |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Incomplete ossification of vertebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |