770755007: Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of brain\Seizure\Seizure disorder\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Finding of brain\Disorder of brain (disorder)\Seizure disorder\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \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\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Metabolic disease\Metabolic bone disease\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3702468014	MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 3	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702469018	Congenital disorder of glycosylation due to PIGT (phosphatidylinositol glycan anchor biosynthesis class T) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3702470017	Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702471018	Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702472013	Congenital disorder of glycosylation due to PIGT deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3702473015	A rare congenital disorder of glycosylation with characteristics of neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13998071000172117	trouble congénital de la glycosylation par déficit en PIGT (phosphatidylinositol glycan anchor biosynthesis class T)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
13998081000172119	syndrome de déficience intellectuelle, convulsions, hypotonie et anomalies ophtalmiques et squelettiques	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13998091000172116	syndrome de MCAHS (multiple congenital anomalies, hypotonia, seizures) de type 3	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5078771000172110	syndroom van verstandelijke handicap, convulsies, hypotonie en afwijkingen van oog en skelet	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5078781000172113	congenitaal defect in glycosylering door PIGT-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5078791000172111	syndroom van mentale retardatie, convulsies, hypotonie en afwijkingen van oog en skelet	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5078801000172112	syndroom van verstandelijke beperking, insulten, hypotonie en afwijkingen van oog en skelet	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5078811000172110	MCAHS type 3	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5078821000172117	syndroom van verstandelijke beperking, epileptische aanvallen, hypotonie en afwijkingen van oog en skelet	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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