Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Cecum structure |
Is a |
False |
Large intestine part |
Inferred relationship |
Some |
|
Anal canal structure |
Is a |
False |
Large intestine part |
Inferred relationship |
Some |
|
Rectum structure |
Is a |
False |
Large intestine part |
Inferred relationship |
Some |
|
Appendix structure |
Is a |
False |
Large intestine part |
Inferred relationship |
Some |
|
Colonic part of cloaca |
Is a |
True |
Large intestine part |
Inferred relationship |
Some |
|
Colon structure |
Is a |
False |
Large intestine part |
Inferred relationship |
Some |
|
Rectosigmoid structure |
Is a |
False |
Large intestine part |
Inferred relationship |
Some |
|
Partial excision of large intestine |
Procedure site |
False |
Large intestine part |
Inferred relationship |
Some |
1 |
Exacerbation of ulcerative colitis (disorder) |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
2 |
Ulcerative colitis |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
1 |
Ulcerøs proktokolit, ikke nærmere specificeret |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
2 |
[X]Other ulcerative colitis |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
2 |
Iritis with ulcerative colitis (disorder) |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
3 |
Partial excision of large intestine |
Procedure site - Direct (attribute) |
False |
Large intestine part |
Inferred relationship |
Some |
1 |
Ulcerøs proktokolit, ikke nærmere specificeret |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
2 |
Ulcerative colitis |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
1 |
[X]Other ulcerative colitis |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
2 |
Exacerbation of ulcerative colitis (disorder) |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
2 |
Iritis with ulcerative colitis (disorder) |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
3 |
Partial excision of large intestine |
Procedure site - Direct (attribute) |
True |
Large intestine part |
Inferred relationship |
Some |
1 |
Congenital aganglionic megacolon |
Finding site |
True |
Large intestine part |
Inferred relationship |
Some |
1 |
Congenital aganglionic megacolon |
Finding site |
True |
Large intestine part |
Inferred relationship |
Some |
2 |
Long segment Hirschsprung's disease |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
1 |
Long segment Hirschsprung's disease |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
3 |
Short segment Hirschsprung's disease |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
1 |
Short segment Hirschsprung's disease |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
3 |
Total intestinal aganglionosis |
Finding site |
True |
Large intestine part |
Inferred relationship |
Some |
1 |
Total intestinal aganglionosis |
Finding site |
True |
Large intestine part |
Inferred relationship |
Some |
2 |
Aganglionosis of Auerbach's plexus |
Finding site |
True |
Large intestine part |
Inferred relationship |
Some |
2 |
Aganglionosis of Auerbach's plexus |
Finding site |
True |
Large intestine part |
Inferred relationship |
Some |
3 |
Mowat-Wilson syndrome (disorder) |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
3 |
Mowat-Wilson syndrome (disorder) |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
4 |
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). |
Finding site |
True |
Large intestine part |
Inferred relationship |
Some |
1 |
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). |
Finding site |
True |
Large intestine part |
Inferred relationship |
Some |
2 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
8 |
Extensive aganglionosis Hirschsprung disease (disorder) |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
4 |
Extensive aganglionosis Hirschsprung disease (disorder) |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
5 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
10 |
Structure of wall of large intestine (body structure) |
Is a |
True |
Large intestine part |
Inferred relationship |
Some |
|
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). |
Finding site |
True |
Large intestine part |
Inferred relationship |
Some |
5 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). |
Finding site |
True |
Large intestine part |
Inferred relationship |
Some |
4 |
Mowat-Wilson syndrome (disorder) |
Finding site |
True |
Large intestine part |
Inferred relationship |
Some |
1 |
Mowat-Wilson syndrome (disorder) |
Finding site |
True |
Large intestine part |
Inferred relationship |
Some |
2 |
Long segment Hirschsprung's disease |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
2 |
Short segment Hirschsprung's disease |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
2 |
Extensive aganglionosis Hirschsprung disease (disorder) |
Finding site |
True |
Large intestine part |
Inferred relationship |
Some |
1 |
Extensive aganglionosis Hirschsprung disease (disorder) |
Finding site |
True |
Large intestine part |
Inferred relationship |
Some |
2 |
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. |
Finding site |
False |
Large intestine part |
Inferred relationship |
Some |
5 |
A rare genetic developmental defect during embryogenesis syndrome with characteristics of total or partial colonic aganglionosis associated with peripheral usually multifocal, neuroblastic neoplasm (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction is occasionally associated. |
Finding site |
True |
Large intestine part |
Inferred relationship |
Some |
1 |
A rare genetic developmental defect during embryogenesis syndrome with characteristics of total or partial colonic aganglionosis associated with peripheral usually multifocal, neuroblastic neoplasm (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction is occasionally associated. |
Finding site |
True |
Large intestine part |
Inferred relationship |
Some |
2 |
Region of large intestine |
Is a |
True |
Large intestine part |
Inferred relationship |
Some |
|
Cloacogenic zone |
Is a |
False |
Large intestine part |
Inferred relationship |
Some |
|
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) |
Finding site |
True |
Large intestine part |
Inferred relationship |
Some |
3 |
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) |
Finding site |
True |
Large intestine part |
Inferred relationship |
Some |
5 |