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

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Poor muscle tone\Multiple congenital anomalies, hypotonia, seizures syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Finding of brain\Encephalopathy\Seizure disorder\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disorder of head\Encephalopathy\Seizure disorder\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Muscle finding\Muscle tone - finding\Poor muscle tone\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Musculoskeletal finding\Poor muscle tone\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple congenital anomalies, hypotonia, seizures syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple congenital anomalies, hypotonia, seizures syndrome

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3766848015	Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3766849011	Congenital disorder of glycosylation due to PIGN (phosphatidylinositol glycan anchor biosynthesis class N) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3766850011	PIGN-CDG - phosphatidylinositol glycan anchor biosynthesis class N congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3766851010	Multiple congenital anomalies, hypotonia, seizures syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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