| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Melorheostosis of humerus (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A metabolic disorder characterized by prolonged apnea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency. It is caused by mutations in the BCHE located on chromosome 3 (3q26.1-3q26.2) and multiple atypical variants have been identified. The condition is transmitted as an autosomal recessive trait. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Autosomal recessive agammaglobulinemia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Hypohidrosis-diabetes insipidus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital rectal stenosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Simple syndactyly of toes, first web space |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of joint of knee (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of joint of right knee (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of joint of left knee (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of joint of shoulder region |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital dislocation of joint of shoulder region (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital dislocation of left glenohumeral joint |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital dislocation of right glenohumeral joint |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital neurogenic urinary bladder (finding) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare subtype of haemochromatosis characterised by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related haemochromatosis is not enough to fully explain the clinical picture of the patient. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic syndrome with characteristics of developmental delay and mild to moderate intellectual disability. Verbal language acquisition is usually delayed, with restricted language. The congenital heart defects are present in 41% of individuals, the most frequent being interatrial communication and interventricular communication. The syndrome is caused by heterozygous, usually de novo pathogenic or likely pathogenic variants in the CDK13 gene (7p14.1), coding for a protein which regulates transcription. Transmission is autosomal dominant however, in most situations, the pathogenic variants arise de novo, and thus, the risk of sibling recurrence is low. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Fused common atrioventricular valve papillary muscle |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of joint of foot |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Oculocutaneous albinism type 8 (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Oculocutaneous albinism type 8 (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by a variable phenotype including macrocephaly, postnatal overgrowth, advanced carpal ossification, obesity, speech delay, intellectual disability, autism spectrum disorders, and behavioral difficulties with aggressive outbursts, and variable facial dysmorphism. Seizures, structural abnormalities of the brain, as well as a variety of other manifestations such as recurrent otitis media, joint hypermobility, hirsutism, or nevi have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital spondylolysis (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of microcephaly, severe global developmental delay and intellectual disability, hypotonia, respiratory insufficiency, failure to thrive, and congenital anomalies affecting the skeleton, eyes, and several organ systems. Seizures and hearing loss are sometimes observed. Independent ambulation and meaningful speech are not attained. Common dysmorphic facial features include small forehead, biparietal narrowing, flat face, hypertelorism, arched eyebrows, short, upslanting palpebral fissures, wide nasal bridge, small, upturned nose, forward facing ears, and micrognathia. Brain imaging shows structural abnormalities in all patients. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic neurometabolic disease characterised by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anaemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. Dysmorphic facial features include large, square forehead, prominent supraorbital ridges, broad nasal tip, large ears, prominent lower lip, and minor dental anomalies such as small upper lateral incisors and central incisor gap. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies syndrome with characteristics of several of the typical clinical features of Bohring Opitz syndrome such as intrauterine growth retardation, facial dysmorphism, microcephaly, severe feeding difficulties, joint contractures, intellectual disability and a Bohring Opitz syndrome posture of upper limbs. Trigonocephaly, synophrys, high myopia and cyclic emesis are very rarely described. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies syndrome with characteristics of several of the typical clinical features of Bohring Opitz syndrome such as intrauterine growth retardation, facial dysmorphism, microcephaly, severe feeding difficulties, joint contractures, intellectual disability and a Bohring Opitz syndrome posture of upper limbs. Trigonocephaly, synophrys, high myopia and cyclic emesis are very rarely described. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital dysplasia of joint of left foot (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of joint of right foot (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of joint of bilateral feet (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of joint of bilateral feet (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A form of pontocerebellar hypoplasia characterized by microcephaly, severe global developmental delay and intellectual disability, dysmorphic facial features, cerebellar syndrome, and pontocerebellar hypoplasia on brain imaging. Behavioral abnormalities are frequently observed. Other reported manifestations include seizures, ocular anomalies, recurrent respiratory infections, and thin or absent corpus callosum, among others. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A form of pontocerebellar hypoplasia characterized by microcephaly, severe global developmental delay and intellectual disability, dysmorphic facial features, cerebellar syndrome, and pontocerebellar hypoplasia on brain imaging. Behavioral abnormalities are frequently observed. Other reported manifestations include seizures, ocular anomalies, recurrent respiratory infections, and thin or absent corpus callosum, among others. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A form of pontocerebellar hypoplasia characterized by microcephaly, severe global developmental delay and intellectual disability, dysmorphic facial features, cerebellar syndrome, and pontocerebellar hypoplasia on brain imaging. Behavioral abnormalities are frequently observed. Other reported manifestations include seizures, ocular anomalies, recurrent respiratory infections, and thin or absent corpus callosum, among others. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
| A form of pontocerebellar hypoplasia with characteristics of infantile onset of severe global developmental delay with absent speech, hypotonia, feeding problems, dysmorphic craniofacial features, and development of pontocerebellar hypoplasia on brain imaging later in childhood. Other structural abnormalities of the brain, which may already be apparent at an earlier stage, include small hippocampus, thin corpus callosum, periventricular white matter abnormalities, and Dandy-Walker malformation. Seizures, nystagmus, and cortical visual impairment have been reported in some cases. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A form of pontocerebellar hypoplasia with characteristics of infantile onset of severe global developmental delay with absent speech, hypotonia, feeding problems, dysmorphic craniofacial features, and development of pontocerebellar hypoplasia on brain imaging later in childhood. Other structural abnormalities of the brain, which may already be apparent at an earlier stage, include small hippocampus, thin corpus callosum, periventricular white matter abnormalities, and Dandy-Walker malformation. Seizures, nystagmus, and cortical visual impairment have been reported in some cases. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A form of pontocerebellar hypoplasia characterised by severe, progressive microcephaly and severe global developmental delay apparent from birth, severe intellectual disability with lack of social interactions and absence of speech, and pontocerebellar hypoplasia and complete or partial agenesis of the corpus callosum on brain imaging. In addition, affected individuals often present hypotonia, spastic tetraplegia, and early-onset seizures. Chronic anaemia and thrombocytopenia have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A form of pontocerebellar hypoplasia characterised by severe, progressive microcephaly and severe global developmental delay apparent from birth, severe intellectual disability with lack of social interactions and absence of speech, and pontocerebellar hypoplasia and complete or partial agenesis of the corpus callosum on brain imaging. In addition, affected individuals often present hypotonia, spastic tetraplegia, and early-onset seizures. Chronic anaemia and thrombocytopenia have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A form of pontocerebellar hypoplasia characterised by severe, progressive microcephaly and severe global developmental delay apparent from birth, severe intellectual disability with lack of social interactions and absence of speech, and pontocerebellar hypoplasia and complete or partial agenesis of the corpus callosum on brain imaging. In addition, affected individuals often present hypotonia, spastic tetraplegia, and early-onset seizures. Chronic anaemia and thrombocytopenia have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic syndromic intellectual disability disorder characterized by global developmental delay, often with severe hypotonia and limited mobility, intellectual disability (mild to severe) with absent or significantly impaired speech and behavioral problems. Craniofacial features include blepharophimosis, epicanthal folds, sparse eyebrows and eyelashes, broad nasal bridge, short nose with downturned tip, open mouth with thin upper vermillion, and abnormal ears. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of joint of left shoulder region |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of joint of right shoulder region (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of right ankle joint (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of ankle joint (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital dysplasia of left ankle joint (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital pneumonia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare congenital limb malformation with characteristics of true congenital dislocation of the shoulder, developing in utero. It can be unilateral or bilateral and is usually associated with other abnormalities of the shoulder girdle, such as in the glenoid, the humeral head, the joint capsule, and the scapula. In addition, it may be accompanied by other malformations, like developmental hip dysplasia or cardiac malformation. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare dysraphic abnormality characterised by the infiltration of fatty tissue localised in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There is no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare dysraphic abnormality characterised by the infiltration of fatty tissue localised in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There is no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Single coronary artery dividing into right coronary artery and left coronary artery (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Single left coronary artery supplying all of heart with usual distribution of right coronary artery derived from distal left coronary artery (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Single right coronary artery supplying all of heart with usual distribution of left coronary artery derived from distal right coronary artery (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare dysraphic abnormality characterised by the infiltration of fatty tissue localised in the filum terminale, which thickens and loses its flexibility, with normal conus shape, regardless of conus level. There is no other spinal cord malformation associated, but it can be associated with extraspinal malformation (anorectal malformation) or syndrome. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare dysraphic abnormality characterised by the infiltration of fatty tissue localised in the filum terminale, which thickens and loses its flexibility, with normal conus shape, regardless of conus level. There is no other spinal cord malformation associated, but it can be associated with extraspinal malformation (anorectal malformation) or syndrome. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare dysraphic abnormality characterised by the infiltration of fatty tissue localised in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There is no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterized by stretched neurulation of spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialized. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterized by stretched neurulation of spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialized. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterized by stretched neurulation of spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialized. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Atresia of common atrioventricular valve |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Right atrioventricular valve atresia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital atresia of anterior naris (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital atresia of left anterior naris (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital atresia of right anterior naris (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Left atrioventricular valve atresia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic disorder involving multiple structures of the eye. The disease is characterised by a combination of congenital aphakia and pan ocular anomalies including iris hypoplasia, microphthalmia, and microcornea. Other ophthalmological features may include nystagmus, glaucoma, strabismus, congenital leukocoria, anterior persistent fetal vasculature and posterior segment anomalies (e.g. optic nerve and foveal hypoplasia, intravitreous haemorrhages). No extraocular manifestations are observed. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare dysraphic spinal cord lipoma with characteristics of a lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare dysraphic spinal cord lipoma with characteristics of a lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare dysraphic spinal cord lipoma with characteristics of a lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare closed dysraphism with stalk characterised by a dorsal midline dermal sinus tract lined by keratinising stratified squamous epithelium extending to the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibres can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify prophylactic surgery. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare closed dysraphism with stalk characterised by a dorsal midline dermal sinus tract lined by keratinising stratified squamous epithelium extending to the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibres can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify prophylactic surgery. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare closed dysraphism with stalk characterised by a dorsal midline dermal sinus tract lined by keratinising stratified squamous epithelium extending to the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibres can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify prophylactic surgery. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare closed dysraphism with stalk characterised by a dorsal midline dermal sinus tract lined by keratinising stratified squamous epithelium extending to the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibres can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify prophylactic surgery. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A rare closed dysraphism with terminal stalk with characteristics of persistant rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare closed dysraphism with terminal stalk with characteristics of persistant rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare closed dysraphism with terminal stalk with characteristics of persistant rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare, closed spinal dysraphism with characteristics of a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare, closed spinal dysraphism with characteristics of a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare, closed spinal dysraphism with characteristics of a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare, closed spinal dysraphism with characteristics of a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A rare form of limited dorsal myeloschisis (LDM), with characteristics of a non-saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to the cutaneous stigmata. Fibroneural stalk varies in thickness and complexity. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare form of limited dorsal myeloschisis (LDM), with characteristics of a non-saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to the cutaneous stigmata. Fibroneural stalk varies in thickness and complexity. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare form of limited dorsal myeloschisis (LDM), with characteristics of a non-saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to the cutaneous stigmata. Fibroneural stalk varies in thickness and complexity. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare dysraphic abnormality with characteristics of a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity, and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare dysraphic abnormality with characteristics of a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity, and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare dysraphic abnormality with characteristics of a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity, and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare form of limited dorsal myeloschisis (LDM), characterized by the stalk attached to the apex of a fully epithelialized meningocele. Chiari II malformation is not present. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare form of limited dorsal myeloschisis (LDM), characterized by the stalk attached to the apex of a fully epithelialized meningocele. Chiari II malformation is not present. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare form of limited dorsal myeloschisis (LDM), characterized by the stalk attached to the apex of a fully epithelialized meningocele. Chiari II malformation is not present. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| 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 |
1 |
| 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 |
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