| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A very rare non-dysraphic spinal cord lipoma which is located within the spinal cord. There is no defect in the overlying dura. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital malformation of helix (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital deformity of helix |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital adhesion of helix (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare developmental defect during embryogenesis with characteristics of the presence of major features of both blepharophimosis-intellectual disability syndrome and genitopatellar syndrome. These major features may include blepharophimosis, ptosis, hypomimia, skeletal features like patellar a/hypoplasia and renal and/or genital malformations. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by variable intellectual disability and/or developmental delay, epilepsy, generalised hypertrichosis, severe gingival overgrowth and visual impairment in some patients. Common craniofacial features include bitemporal narrowing, bushy and straight eyebrows, long eyelashes, low-set ears, deep/short philtrum, everted upper lip, prominent upper and lower vermilion, wide mouth, micrognathia, and retrognathia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by variable intellectual disability and/or developmental delay, epilepsy, generalised hypertrichosis, severe gingival overgrowth and visual impairment in some patients. Common craniofacial features include bitemporal narrowing, bushy and straight eyebrows, long eyelashes, low-set ears, deep/short philtrum, everted upper lip, prominent upper and lower vermilion, wide mouth, micrognathia, and retrognathia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic, multiple congenital anomalies syndrome with characteristics of the overlap of several typical clinical features of Bohring-Opitz syndrome and of Crisponi Syndrome/cold-induced sweating syndrome. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare mosaic form of neurofibromatosis type 1 (NF1) characterised by findings typical of NF1, namely multiple cafe-au-lait macules (CALMs), cutaneous neurofibromas, skinfold freckling/lentiginous macules, iris Lisch nodules and tumours of the nervous system. Mosaic form is caused by postzygotic pathogenic variants in NF1-gene. In mosaic NF1 the allelic/tissue distribution of the pathogenic NF1-variant clearly suggests mosaicism and/or the distribution of CALMs and cutaneous neurofibromas is segmental. The phenotype can be milder than in NF1. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare mosaic form of neurofibromatosis type 1 (NF1) characterised by findings typical of NF1, namely multiple cafe-au-lait macules (CALMs), cutaneous neurofibromas, skinfold freckling/lentiginous macules, iris Lisch nodules and tumours of the nervous system. Mosaic form is caused by postzygotic pathogenic variants in NF1-gene. In mosaic NF1 the allelic/tissue distribution of the pathogenic NF1-variant clearly suggests mosaicism and/or the distribution of CALMs and cutaneous neurofibromas is segmental. The phenotype can be milder than in NF1. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare mosaic form of NF2-related schwannomatosis characterised by findings typical of NF2-related schwannomatosis, namely development of multiple benign nerve sheath tumours, particularly affecting the vestibular nerve. Mosaic form is caused by postzygotic pathogenic variants in NF2. In mosaic NF2-related schwannomatosis the allelic/tissue distribution of the pathogenic NF2 variant clearly suggests mosaicism. The phenotype can be milder than in NF2-related schwannomatosis. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare mosaic form of NF2-related schwannomatosis characterised by findings typical of NF2-related schwannomatosis, namely development of multiple benign nerve sheath tumours, particularly affecting the vestibular nerve. Mosaic form is caused by postzygotic pathogenic variants in NF2. In mosaic NF2-related schwannomatosis the allelic/tissue distribution of the pathogenic NF2 variant clearly suggests mosaicism. The phenotype can be milder than in NF2-related schwannomatosis. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of mild to moderate intellectual disability, autism spectrum phenotype, macrocephaly, tall stature, gastrointestinal problems (including recurrent constipation), distinctive facial features (including wide-set eyes with down-slanted palpebral fissure, broad nose with full nasal tip, pointed chin and broad forehead with prominent supraorbital ridge) and sleep problems. Other clinical manifestations include anxiety problems, attention problems, impaired social interactions, and seizures. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual disability frequently co-occurring with behavioral problems (including anxiety, attention deficit hyperactivity disorder and autistic spectrum disorder), variable somatic overgrowth, macrocephaly and distinctive dysmorphic facial features including high hairline, frontal bossing, downslanting palpebral fissures, telecanthus, hypertelorism, deep-set eyes and full cheeks. Pierre Robin sequence with submucous cleft has also been reported. Additional clinical features include skeletal abnormalities, hypotonia, cardiac anomalies, hypothyroidism, cryptorchidism, visual disturbances and ectodermal problems such as sparse hair, thin nails, and abnormal dentition. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| An inborn error of valine metabolism with prevalence unknown. Only one symptomatic patient with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency has been described so far, with several more identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare organic aciduria with characteristics of impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Diffuse hyperplastic perilobular nephroblastomatosis (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital malformation of angle of anterior chamber of right eye |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital malformation of angle of anterior chamber of left eye |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital malformation of angle of anterior chamber of bilateral eyes (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital malformation of angle of anterior chamber of bilateral eyes (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Glutaryl-CoA dehydrogenase deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital contracture of toe joint of right foot |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital contracture of toe joint of left foot (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital contracture of toe joint of bilateral feet (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| An isolated non syndromic fissure type embryopathy extending from the upper lip to the nasal base. The cleft is paramedian and located at the level of the philtrum. It presents as a cutaneous, muscular, and mucosal interruption from the lip to the nasal base, associated with nostril and nasal septum deformations. Clinical forms range from a simple notch in the upper lip to a complete cleft lip with an opening at the base of the nostril without reaching as far as the gum (alveolar ridge). This embryopathy appears between the 5th and 12th week of pregnancy due to a failure in the fusion of the frontal processes (fronto-nasal process, medial and lateral nasal processes, maxillary process). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Monostotic fibrous dysplasia of bone of forearm (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Monostotic fibrous dysplasia of bone of left forearm (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Monostotic fibrous dysplasia of right forearm |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Monostotic fibrous dysplasia of bone of shoulder girdle (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Monostotic fibrous dysplasia of bone of left shoulder girdle (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Monostotic fibrous dysplasia of bone of right shoulder girdle (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital contracture of toe joint of bilateral feet (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare form of neurofibromatosis characterised by the development of multiple schwannomas (nerve sheath tumours), without involvement of the vestibular nerves, and often associated with chronic pain. Dysaesthesia and paraesthesia may also be present. Common localisations include the spine, peripheral nerves, and the cranium. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare form of neurofibromatosis characterised by the development of multiple schwannomas (nerve sheath tumours), without involvement of the vestibular nerves, and often associated with chronic pain. Dysaesthesia and paraesthesia may also be present. Common localisations include the spine, peripheral nerves, and the cranium. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
| A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
6 |
| A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
7 |
| A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
12 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, severe intellectual disability, severe speech and communication problems and distinctive dysmorphic faces (high hairline, thin eyebrows, hypertelorism, dysmorphic ears, broad nasal bridge and tip, and narrow jaw). Height is not affected. Some patients may also present autistic behaviors. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare constitutional aplastic anaemia characterised by aplastic anaemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioural problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukaemia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare constitutional aplastic anaemia characterised by aplastic anaemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioural problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukaemia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of complex heart defects (including hypoplastic left heart, aortic valve atresia, mitral valve atresia, tubular hypoplasia of the ascending aorta, Scimitar syndrome), external urogenital abnormalities (including ambiguous external genitalia, poorly defined urethral meatus, blind-ending vagina in females or bifid scrotum, penoscrotal hypospadias with micropenis and cryptorchidism in males). Congenital diaphragmatic hernia, pulmonary hypoplasia and intestinal malrotation are other major clinical features. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of complex heart defects (including hypoplastic left heart, aortic valve atresia, mitral valve atresia, tubular hypoplasia of the ascending aorta, Scimitar syndrome), external urogenital abnormalities (including ambiguous external genitalia, poorly defined urethral meatus, blind-ending vagina in females or bifid scrotum, penoscrotal hypospadias with micropenis and cryptorchidism in males). Congenital diaphragmatic hernia, pulmonary hypoplasia and intestinal malrotation are other major clinical features. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment, dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment, dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment, dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, speech delay and variable degree of intellectual disability (mostly mid-to-moderate but some patients may also have normal intelligence) due to CHD4 gene mutations. Even though clinical manifestations are significantly variable among patients, most patients manifest dysmorphic facial features (could sometimes include macrocephaly), congenital heart defects, hypotonia and ophthalmologic abnormalities. Other clinical features may include brain structure anomalies, skeletal anomalies, hearing impairment and gonadal abnormalities. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Melorheostosis of left rib (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Melorheostosis of left rib (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Melorheostosis of right rib (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Melorheostosis of right rib (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Melorheostosis of rib |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Melorheostosis of rib |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Melorheostosis of bone of right hand (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Melorheostosis of bone of right hand (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Melorheostosis of bone of hand (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Melorheostosis of bone of hand (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Melorheostosis of bone of left hand |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Melorheostosis of bone of left hand |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Melorheostosis of bone of left forearm |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Melorheostosis of bone of left forearm |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Melorheostosis of bone of right forearm |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Melorheostosis of bone of right forearm |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Melorheostosis of bone of forearm |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Melorheostosis of bone of forearm |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital cubitus varus of left elbow (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital cubitus varus of right elbow |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Bilateral congenital cubitus varus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Bilateral congenital cubitus varus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital hypoplasia of left zygomatic bone (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital hypoplasia of right zygomatic bone (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital heart defect (including atrial or ventricular septal defects and aortic coarctation), cleft palate, and variable degree of developmental delay and intellectual disability. Most patients reported to also have autism spectrum disorder. Overlapping facial features were reported in some patients including broad forehead with high anterior hairline, finely arched eyebrows, short philtrum, thin or tented upper lip. Other clinical features may involve mild distal skeletal abnormalities, hypotonia, hearing loss, feeding problems and skin abnormalities. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital heart defect (including atrial or ventricular septal defects and aortic coarctation), cleft palate, and variable degree of developmental delay and intellectual disability. Most patients reported to also have autism spectrum disorder. Overlapping facial features were reported in some patients including broad forehead with high anterior hairline, finely arched eyebrows, short philtrum, thin or tented upper lip. Other clinical features may involve mild distal skeletal abnormalities, hypotonia, hearing loss, feeding problems and skin abnormalities. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare inherited epidermolysis bullosa (EB) characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital radioulnar synostosis of left forearm (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital radioulnar synostosis of left forearm (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital radioulnar synostosis of right forearm (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital radioulnar synostosis of right forearm (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital bilateral radioulnar synostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital bilateral radioulnar synostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital bilateral radioulnar synostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Congenital bilateral radioulnar synostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital hypoplasia of bilateral zygomatic bones (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital hypoplasia of bilateral zygomatic bones (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A factor activity level of >5 percent of normal and <40 percent of normal. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A factor activity level ≥1 percent of normal and ≤5 percent of normal. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A factor activity level <1 percent of normal. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Congenital hyperlordosis of lumbosacral spine (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital hyperlordosis of lumbosacral spine (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Hemophilia B Leyden (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Transitional atrioventricular septal defect (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Transitional atrioventricular septal defect (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Transitional atrioventricular septal defect (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
FHIR
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