785303004: Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \General finding of soft tissue\Poor muscle tone (finding)\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Muscle finding\Finding of muscle tone (finding)\Poor muscle tone (finding)\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Muscle finding\Disorder of skeletal AND/OR smooth muscle (disorder)\Disorder of skeletal muscle\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Musculoskeletal finding\Poor muscle tone (finding)\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Neurological finding (finding)\Seizure related finding\Seizure\Seizure disorder\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Disorder of skeletal AND/OR smooth muscle (disorder)\Disorder of skeletal muscle\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Developmental disorder\Developmental hereditary disorder\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3766852015	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3766848015	Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3766849011	Congenital disorder of glycosylation due to PIGN (phosphatidylinositol glycan anchor biosynthesis class N) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3766850011	PIGN-CDG - phosphatidylinositol glycan anchor biosynthesis class N congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3766851010	Multiple congenital anomalies, hypotonia, seizures syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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