Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Total intestinal aganglionosis (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital enlargement of coronary sinus |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macrodactyly of toes - fatty nerve tumor |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital hypertrophy of sphenoid bone (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macrogyria |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital hypertrophy of nasal cavity |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fallot's triad |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital hypertrophy of pulmonary valve (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital hypertrophy of cardiac ventricle |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital tracheobronchomegaly |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tsuge operation on finger for macrodactyly repair |
Direct morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macrodactyly of toe (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital hypertrophy of testis |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Unilateral congenital macrostomia |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital hypertrophy of tricuspid valve |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Giant esophagus |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital onychauxis |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital macrostomia (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Giant kidney |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital splenomegaly (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital hypertrophy of aortic valve (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Megaloappendix (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital hypertrophy of adrenal gland |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital hypertrophy of lung |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital syphilitic splenomegaly |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macrogenia |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital thickening of ulna |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macrotia |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital enlargement of nasopharynx |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial megalencephaly |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bannayan syndrome |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Repair of macrodactyly |
Direct morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral congenital macrostomia |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macroencephaly (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sporadic megalencephaly |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital macrognathism |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macrodactyly of toes - simple |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital hypertrophy of ovary (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital hypertrophy of pylorus (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macrophthalmos |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hirschsprung's disease NOS |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital aganglionic megacolon (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Repair of macrodactyly of finger |
Direct morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital hypertrophy of mitral valve |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fetal macrocephaly (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital hypertrophy of oviduct (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital hypertrophy of oviduct (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Aganglionosis of Auerbach's plexus (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Fetal macrocephaly (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hemimegalencephaly (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fallot's trilogy (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hemimegalencephaly (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fallot's trilogy (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital hypertrophy of adrenal gland |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Fallot's trilogy (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital hypertrophy of ovary (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital hypertrophy of cardiac ventricle |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Myostatin related hypertrophy of muscle |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital hypertrophy of pulmonary valve (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital hypertrophy of lung |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital hypertrophy of oviduct (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital hypertrophy of aortic valve (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital hypertrophy of cardiac ventricle |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital hypertrophy of pylorus (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital hypertrophy of retinal pigment epithelium |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital hypertrophy of adrenal gland |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital hypertrophy of nasal cavity |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital hypertrophy of mitral valve |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital hypertrophy of ovary (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital hypertrophy of testis |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital hypertrophy of ureteric valve |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital hypertrophy of tricuspid valve |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital hypertrophy of sphenoid bone (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Giant esophagus |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Mowat-Wilson syndrome (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Long segment Hirschsprung's disease (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Short segment Hirschsprung's disease |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital aganglionic megacolon (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Total intestinal aganglionosis (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Mowat-Wilson syndrome (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Aganglionosis of Auerbach's plexus (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Congenital overgrowth of partial lower limb |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital overgrowth of foot |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital overgrowth of whole lower limb (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital overgrowth of lower limb |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital overgrowth of proximal lower limb |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital overgrowth of distal lower limb |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital macrocheilia |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital macrodactyly (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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). |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Haddad syndrome (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Hirschsprung disease with type D brachydactyly syndrome |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
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. |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
Hirschsprung disease with deafness and polydactyly syndrome |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Goldberg Shprintzen megacolon syndrome (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
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). |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Aganglionosis of Auerbach's plexus (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Mowat-Wilson syndrome (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hirschsprung disease of rectosigmoid region |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Extensive aganglionosis Hirschsprung disease (disorder) |
Associated morphology |
False |
hypertrophie congénitale |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |