| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Congenital mesocolic hernia |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Porokeratosis of Mibelli, plaque type |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Porokeratosis of Mibelli, plaque type |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Gonadal dysgenesis |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Scimitar syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Facial milia, lobate tongue, lingual and labial frenula syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Incomplete development of membranous labyrinth |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Mobile cecum |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Mobile cecum |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Mobile cecum |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital tarsal kink (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Venous valvular anomaly |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Cleft upper lip, upper jaw AND palate |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Cleft upper lip, upper jaw AND palate |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Cleft upper lip, upper jaw AND palate |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Mannosidosis |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Condition where the ulna projects more distally relative to the radius. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital hypoplasia of aortic valve |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Port-wine stain with associated anomalies (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Hypoplastic tricuspid papillary muscle |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital coxa vara |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital left ventricular aneurysm |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Stenosis of systemic to pulmonary artery collateral artery |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Stenosis of systemic to pulmonary artery collateral artery |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Stenosis of systemic to pulmonary artery collateral artery |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital anomaly of ischium |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Accessory pancreas |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
6 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
7 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Rutland ciliary disorientation syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachycardia or sinus bradycardia. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachycardia or sinus bradycardia. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachycardia or sinus bradycardia. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachycardia or sinus bradycardia. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital aplasia of scrotum |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital atresia of trachea |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital anomaly of brain |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Common atrioventricular valve in functionally univentricular heart (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Common atrioventricular valve in functionally univentricular heart (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital abnormal fusion of liver lobes |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Hypospadias (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital junctional epidermolysis bullosa |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Simple syndactyly of fingers |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Dysostosis multiplex group |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital absence of ureter |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Interruption of aortic arch distal to subclavian artery (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Incomplete ossification of premaxilla |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Pseudo-polycoria |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Muscular subvalvar atresia of aorta (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Dacryocystitis and osteopoikilosis syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Dacryocystitis and osteopoikilosis syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Osteogenesis imperfecta, perinatal lethal |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital anomaly of musculoskeletal system |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Multiple congenital anomalies of fetus |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Benign congenital hypotonia |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Progressive diaphyseal dysplasia |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Osler hemorrhagic telangiectasia syndrome |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Osler hemorrhagic telangiectasia syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital coxa valga |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Achondroplasia |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Achondroplasia |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Achondroplasia |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital labial adhesion |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital deformity of right lower limb |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital absence of nose |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Lattice corneal dystrophy, isolated form |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital malposition of heart |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital anomaly of metacarpal bone |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Systemic lymphangiomatosis |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital genu varum |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Oro-facial digital syndrome type 10 (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Oro-facial digital syndrome type 10 (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Oro-facial digital syndrome type 10 (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Oro-facial digital syndrome type 10 (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Oro-facial digital syndrome type 10 (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Multiple malformation syndrome with limb defect as major feature |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Imperforate pulmonary valve |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital abnormal shape of fibula |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Allemann's syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Parathyromatosis |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Pulmonary venous confluence in horizontal orientation (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency, virilization of external genitalia in females, and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Facioscapulohumeral muscular dystrophy (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Right superior vena cava persisting to coronary sinus and then to right sided atrium (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Right superior vena cava persisting to coronary sinus and then to right sided atrium (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital hypoplasia of presphenoid bone |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
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