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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\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
• \affection de la tête\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
• \affection de la tête\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
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\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\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Genetic disease\maladie héréditaire\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\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\affection d'un système corporel\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\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\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\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\affection de la tête\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\affection de la tête\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\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\trouble métabolique\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\trouble métabolique\maladie métabolique de l'os\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Congenital disease\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\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\trouble du développement\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\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
• \Disease\trouble du développement\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

Expanded Value Set

This concept is not in any reference sets

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