| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Congenital absence of coronary sinus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Dolichopellic pelvis |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital duplication of appendix |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Facio-auriculo-vertebral spectrum (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Systemic to pulmonary collateral artery from right carotid artery (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Systemic to pulmonary collateral artery from right carotid artery (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital protrusion of tongue |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital protrusion of tongue |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Trabecular dysgenesis |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Absence of teeth as a result of impaction, delayed eruption, exfoliation or extraction. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Absence of teeth as a result of impaction, delayed eruption, exfoliation or extraction. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital stenosis of neck of urinary bladder |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormal plantar creases |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Abnormal plantar creases |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Pseudodiastrophic dysplasia |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Osteopetrosis - delayed type |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital absence of coronary artery |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Brachyphalangia |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Myopathy with tubular aggregates |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Coronary sinus drainage cephalad to left superior vena cava (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Ectodermal dysplasia with tooth-nail defects |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Ectodermal dysplasia with tooth-nail defects |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Hypoplasia of iris |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital trigger thumb |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Radial polydactyly Wassel 2 |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterised by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterised by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Aortic arch hypoplasia between carotid arteries (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Solid rudimentary uterus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Port-wine stain of skin (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Pulmonary hypertension in neurofibromatosis (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Pulmonary hypertension in neurofibromatosis (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Spina bifida of dorsal region (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Spina bifida of dorsal region (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Spina bifida of dorsal region (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital urethrorectal fistula |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital urethrorectal fistula |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital adrenal hypoplasia, X-linked (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Lumbar myelocystocele |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Lumbar myelocystocele |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Lumbar myelocystocele |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Inferior vena cava interruption with right sided azygos continuation |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital malformation of the respiratory system |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital absence of basioccipital bone |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Incomplete ossification of carpal bone |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital pointed ear |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Atrial septal defect through coronary sinus orifice |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Bifid digit |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital hamartoma of skin (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Atresia of aortic arch with fibrous cord (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Unicommissural unicuspid aortic valve (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital corneal opacity |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Floppy infant syndrome |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenism. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Generalised recessive dystrophic epidermolysis bullosa mitis |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Kasabach-Merritt syndrome |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital hypoplasia of aortic arch |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Atrioventricular septal defect with atrioventricular valve regurgitation through left septal commissure (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Atrioventricular septal defect with atrioventricular valve regurgitation through left septal commissure (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Localized congenital cutis laxa (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Primary congenital bronchomalacia |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital malposition of fallopian tube (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital prolapsed uterus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Corneal fragility keratoglobus, blue sclerae AND joint hypermobility |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Corneal fragility keratoglobus, blue sclerae AND joint hypermobility |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Corneal fragility keratoglobus, blue sclerae AND joint hypermobility |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital anomaly of peripheral nerve |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Interruption of coronary artery |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Brachymelia of lower limb (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Cross syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Cross syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Cross syndrome |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Transverse deficiency lower limb - knee level |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Transverse deficiency lower limb - knee level |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Hypoplastic thumb-Blauth 3 |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Tetralogy of Fallot with atresia of pulmonary valve (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Tetralogy of Fallot with atresia of pulmonary valve (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
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