| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Abnormally short proximal phalanx of ring finger |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormally short proximal phalanx of little finger |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormally short proximal phalanx of thumb |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormally short proximal phalanx of great toe |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormally short proximal phalanx of third toe (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormally short proximal phalanx of second toe (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormally short proximal phalanx of fourth toe |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormally short proximal phalanx of finger |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormally short proximal phalanx of fifth toe |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormally short proximal phalanx of index finger (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormally short proximal phalanx of foot (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormally short proximal phalanx of middle finger (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormally short second metacarpal |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormally short third metacarpal (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormally short ring finger (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormally short second toe |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormally short third toe (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormally short ramus of mandible (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormally short second metatarsal (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormally short third metatarsal (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormal tapering of distal femur (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormal tapering of distal metatarsal (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormal tapering of proximal metacarpal (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormal tapering of humerus (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormal tapering of metacarpal (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormal tapering of phalanx of foot (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormal tapering of distal phalanx of finger (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Abnormal tapering of phalanx of finger (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Cyst of subchorionic septum structure of placenta (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Neurenteric cyst of spine (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Neurenteric cyst of spine (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Neurenteric cyst of intracranial structure |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Neurenteric cyst of intracranial structure |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Duplication cyst of trachea (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Duplication cyst of trachea (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Developmental abnormality of molar tooth (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Developmental abnormality of premolar tooth |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Developmental abnormality of incisor tooth |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Developmental abnormality of canine tooth |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Developmental abnormality of deciduous tooth (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of fronto-parietal cortex (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of fronto-parietal cortex (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital superior cerebellar dysplasia |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of head of femur (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of nail unit (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of spine (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of nail unit of toe (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Asymmetric dysplasia of radius |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of thorax (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of nail unit of finger (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of bronchus (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of radius (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of second lumbar vertebra (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of cervical vertebra (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A form of non-syndromic unisutural craniosynostosis characterised by the premature fusion of the suture between the frontal and sphenoid bones of the newborn, leading to frontal flattening and asymmetry of the forehead with recession of the supraorbital rim on the fused side of the head. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A form of non-syndromic unisutural craniosynostosis characterized by premature fusion of one of the two squamosal sutures. Most cases of isolated unilateral squamosal craniosynostosis are normocephalic. The risk of increased intracranial pressure is low. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A form of non-syndromic unisutural craniosynostosis characterized by premature fusion of one of the two lambdoid sutures, resulting in ipsilateral occipitoparietal flattening, contralateral parietal and frontal bossing, occipitomastoid bulge, and posterior-inferior displacement of the ipsilateral ear. The skull appears trapezoid from above, while the face is typically C-shaped with ipsilateral convexity. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A form of non-syndromic multisutural craniosynostosis characterised by bilateral premature fusion of the lambdoid sutures, resulting in flattening and widening of the entire occipital region, with compensatory bossing of the vertex region (giving the cranium an elongated shape), and anterior-posterior displacement of the ears. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A form of non-syndromic multisutural craniosynostosis characterised by bilateral premature fusion of the lambdoid sutures, resulting in flattening and widening of the entire occipital region, with compensatory bossing of the vertex region (giving the cranium an elongated shape), and anterior-posterior displacement of the ears. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare neurologic disease characterized by impaired ability to execute complex coordinated movements underlying the production of speech, leading to highly unintelligible speech in the absence of muscular or sensory deficits. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Schöpf-Schulz-Passarge syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Supravesical fissure of urinary bladder (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Schöpf-Schulz-Passarge syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Schöpf-Schulz-Passarge syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
6 |
| Schöpf-Schulz-Passarge syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
7 |
| A rare spondylodysplastic dysplasia characterized by severe, neonatal skeletal manifestations (including narrow thorax, rhizomelic shortening of the limbs with cupped anterior ends, mild to severe platyspondyly, lacy iliac crests, delayed ossification of the caudal ilia, ragged/cupped metaphyses of the long bones and hypoplastic pubic rami), severe respiratory failure (patients could require lifelong ventilation support), severe short stature and developmental delay. Additional clinical features may include atrial septal defect, seizures, pulmonary hypoplasia, gallbladder hypoplasia and hepatic fibrosis. Neutropenia and decreased serum amylase can be present. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare type of Ehlers-Danlos syndrome characterised by connective tissue defects (joint laxity of finger joints and knees, small joint hypermotility and tissue fragility), vascular complications (atrioventricular defect, symptomatic cerebral aneurysm, vascular dissection) and frontoparietally accentuated polymicrogyria of the cobblestone variant. Specific brain anomalies (including cerebrocortical dysplasia, cerebellar microcysts and white matter anomalies) are present in all patients. Most of the affected individuals have developmental delay and may develop epilepsy. Additional clinical features include spontaneous intracranial hypotension, idiopathic intracranial hypertension, headache, chronic pain syndrome, peripheral neuropathy, plexopathy, translucent skin and clubfoot. Dysmorphic features such as eye anomalies (strabismus, bilateral hyperopia, esotropia, proptosis), pinched nose, thin upper lip, crowded teeth and retrognathia are also reported. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare type of Ehlers-Danlos syndrome characterised by connective tissue defects (joint laxity of finger joints and knees, small joint hypermotility and tissue fragility), vascular complications (atrioventricular defect, symptomatic cerebral aneurysm, vascular dissection) and frontoparietally accentuated polymicrogyria of the cobblestone variant. Specific brain anomalies (including cerebrocortical dysplasia, cerebellar microcysts and white matter anomalies) are present in all patients. Most of the affected individuals have developmental delay and may develop epilepsy. Additional clinical features include spontaneous intracranial hypotension, idiopathic intracranial hypertension, headache, chronic pain syndrome, peripheral neuropathy, plexopathy, translucent skin and clubfoot. Dysmorphic features such as eye anomalies (strabismus, bilateral hyperopia, esotropia, proptosis), pinched nose, thin upper lip, crowded teeth and retrognathia are also reported. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare type of Ehlers-Danlos syndrome characterised by connective tissue defects (joint laxity of finger joints and knees, small joint hypermotility and tissue fragility), vascular complications (atrioventricular defect, symptomatic cerebral aneurysm, vascular dissection) and frontoparietally accentuated polymicrogyria of the cobblestone variant. Specific brain anomalies (including cerebrocortical dysplasia, cerebellar microcysts and white matter anomalies) are present in all patients. Most of the affected individuals have developmental delay and may develop epilepsy. Additional clinical features include spontaneous intracranial hypotension, idiopathic intracranial hypertension, headache, chronic pain syndrome, peripheral neuropathy, plexopathy, translucent skin and clubfoot. Dysmorphic features such as eye anomalies (strabismus, bilateral hyperopia, esotropia, proptosis), pinched nose, thin upper lip, crowded teeth and retrognathia are also reported. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| A rare type of Ehlers-Danlos syndrome characterised by connective tissue defects (joint laxity of finger joints and knees, small joint hypermotility and tissue fragility), vascular complications (atrioventricular defect, symptomatic cerebral aneurysm, vascular dissection) and frontoparietally accentuated polymicrogyria of the cobblestone variant. Specific brain anomalies (including cerebrocortical dysplasia, cerebellar microcysts and white matter anomalies) are present in all patients. Most of the affected individuals have developmental delay and may develop epilepsy. Additional clinical features include spontaneous intracranial hypotension, idiopathic intracranial hypertension, headache, chronic pain syndrome, peripheral neuropathy, plexopathy, translucent skin and clubfoot. Dysmorphic features such as eye anomalies (strabismus, bilateral hyperopia, esotropia, proptosis), pinched nose, thin upper lip, crowded teeth and retrognathia are also reported. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Congenital deformity of left sternocleidomastoid muscle (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital deformity of right sternocleidomastoid muscle (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital deformity of sternocleidomastoid muscle |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Agenesis of external ear |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare primary vascular anomaly characterized by mostly fusiform, rarely saccular aneurysm of the superior vena cava. Patients can be asymptomatic or manifest mostly with dyspnea, chest pain, pain in the retrosternal region, hypotension, acute upper or lower respiratory tract infection symptoms and left arm paresthesias. It is usually incidentally detected due to the presence of mediastinal shadow in X-ray. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| A rare primary vascular anomaly, characterised by saccular or rarely fusiform aneurysm of the inferior vena cava. Patients may present with chest pain, abdominal pain, back pain, lower extremity pain and oedema, fatigue and fainting. Deep venous thrombosis, penile haemorrhage, paradoxical cerebral embolism and pulmonary embolism can also be observed. It is usually incidentally detected during ultrasound or computed tomography scan examinations or in patients with thromboembolic disease. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Adult-onset Steinert myotonic dystrophy (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Childhood-onset Steinert myotonic dystrophy |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Juvenile-onset Steinert myotonic dystrophy (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Late-onset Steinert myotonic dystrophy (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital hallux valgus due to metatarsus primus varus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Left congenital hallux valgus due to metatarsus primus varus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Right congenital hallux valgus due to metatarsus primus varus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Bilateral congenital hallux valgus due to metatarsus primus varus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Bilateral congenital hallux valgus due to metatarsus primus varus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Melorheostosis of sternum |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Melorheostosis of sternum |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Melorheostosis of left ankle region (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Melorheostosis of left ankle region (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Melorheostosis of right ankle region (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Melorheostosis of right ankle region (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Melorheostosis of ankle region (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Melorheostosis of ankle region (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Aplastic uterus with rudimentary cavity |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Aplastic uterus without rudimentary cavity (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Hereditary pyropoikilocytosis |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
7 |
| T-shaped uterus |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
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