| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Keppen Lubinsky syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Pierpont syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Pierpont syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| SYNGAP1-related developmental and epileptic encephalopathy |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| SYNGAP1-related developmental and epileptic encephalopathy |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Prune exopolyphosphatase 1-related neurological syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Prune exopolyphosphatase 1-related neurological syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| 3-methylglutaconic aciduria type 9 |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 3-methylglutaconic aciduria type 9 |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| 9q33.3q34.11 microdeletion syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| 9q33.3q34.11 microdeletion syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| 16p13.2 microdeletion syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 16p13.2 microdeletion syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| 17q24.2 microdeletion syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 17q24.2 microdeletion syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| 9q21.13 microdeletion syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 9q21.13 microdeletion syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| 11q22.2q22.3 microdeletion syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| 11q22.2q22.3 microdeletion syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| 19p13.3 microduplication syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| 19p13.3 microduplication syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| 20q11.2 microdeletion syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| 20q11.2 microdeletion syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Megaconial congenital muscular dystrophy (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Megaconial congenital muscular dystrophy (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| A rare genetic syndromic neurodevelopmental disorder with characteristics of moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behaviour and stereotypic movements are common. The disorder is caused by bi-allelic intragenic deletions (rarely duplications) or truncating variants in the CNTNAP2 gene (7q35-q36.1). It encodes contactin-associated protein 2 (CASPR2), a transmembrane protein from the neurexin superfamily, which is involved in neural-glia interactions and clustering of potassium channels in myelinated axons. Inheritance is autosomal recessive. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare genetic syndromic neurodevelopmental disorder with characteristics of moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behaviour and stereotypic movements are common. The disorder is caused by bi-allelic intragenic deletions (rarely duplications) or truncating variants in the CNTNAP2 gene (7q35-q36.1). It encodes contactin-associated protein 2 (CASPR2), a transmembrane protein from the neurexin superfamily, which is involved in neural-glia interactions and clustering of potassium channels in myelinated axons. Inheritance is autosomal recessive. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| PDE4D haploinsufficiency syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| PDE4D haploinsufficiency syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare X-linked syndromic intellectual disability characterised by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behaviour (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare X-linked syndromic intellectual disability characterised by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behaviour (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare genetic disease characterized by a variable clinical phenotype which includes similar features but is typically less severe than in affected males. Patients may present with mild to borderline intellectual disability, anxiety, social phobia, selective mutism, attention deficit hyperactivity disorder, language deficit, neurologic signs and symptoms (such as seizures, hypotonia, and clonus), ophthalmologic anomalies (strabismus, refractive errors), and facial dysmorphism (including long face, prominent forehead, large, prominent ears, and mandibular prognathism). |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare genetic disease characterized by a variable clinical phenotype which includes similar features but is typically less severe than in affected males. Patients may present with mild to borderline intellectual disability, anxiety, social phobia, selective mutism, attention deficit hyperactivity disorder, language deficit, neurologic signs and symptoms (such as seizures, hypotonia, and clonus), ophthalmologic anomalies (strabismus, refractive errors), and facial dysmorphism (including long face, prominent forehead, large, prominent ears, and mandibular prognathism). |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| PYCR2-related microcephaly, progressive leucoencephalopathy |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| PYCR2-related microcephaly, progressive leucoencephalopathy |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| NDE1-related microhydranencephaly |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| NDE1-related microhydranencephaly |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Short stature, developmental delay, congenital heart defect syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Short stature, developmental delay, congenital heart defect syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Coffin-Lowry syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Coffin-Lowry syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital insensitivity to pain with severe intellectual disability (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Congenital insensitivity to pain with severe intellectual disability (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Severe intellectual disability and progressive spastic paraplegia |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Severe oculo-renal-cerebellar syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
| Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
12 |
| Severe intellectual disability and progressive spastic paraplegia |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| 4q25 proximal deletion syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| 4q25 proximal deletion syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Lamb Shaffer syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Lamb Shaffer syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 12. The disorder has characteristics of intellectual disability, global developmental delay with prominent language impairment, behavioural abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia and brain malformations. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 12. The disorder has characteristics of intellectual disability, global developmental delay with prominent language impairment, behavioural abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia and brain malformations. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| X-linked intellectual disability, hypotonia, movement disorder syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| X-linked intellectual disability, hypotonia, movement disorder syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Acute renal failure following procedure (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Impaired contraction of gallbladder (finding) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome) corresponds to the appearance of BWS in elderly patients. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome) corresponds to the appearance of BWS in elderly patients. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Alzheimer disease with psychosis (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
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