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\Disorder of brain\Seizure disorder\Multiple congenital anomalies, hypotonia, seizures syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\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\Disorder of brain\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\Disorder of brain\Seizure disorder\Multiple congenital anomalies, hypotonia, seizures syndrome

\Muscle finding\Finding of muscle tone\Poor muscle tone\Multiple congenital anomalies, hypotonia, seizures syndrome
\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Multiple congenital anomalies, hypotonia, seizures syndrome

\Musculoskeletal finding\Poor muscle tone\Multiple congenital anomalies, hypotonia, seizures syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Multiple congenital anomalies, hypotonia, seizures syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of glycoprotein metabolism\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\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Multiple congenital anomalies, hypotonia, seizures syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Multiple congenital anomalies, hypotonia, seizures syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Multiple congenital anomalies, hypotonia, seizures syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Multiple congenital anomalies, hypotonia, seizures syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\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\Disorder of brain\Seizure disorder\Multiple congenital anomalies, hypotonia, seizures syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\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 malformation\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 malformation\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\Disorder of glycoprotein metabolism\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 malformation\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 malformation\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3766848015 Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3766849011 Congenital disorder of glycosylation due to PIGN (phosphatidylinositol glycan anchor biosynthesis class N) deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

3766850011 PIGN-CDG - phosphatidylinositol glycan anchor biosynthesis class N congenital disorder of glycosylation en Synonym Active Entire term case sensitive SNOMED CT core module

3766851010 Multiple congenital anomalies, hypotonia, seizures syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple congenital anomalies, hypotonia, seizures syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Multiple congenital anomalies, hypotonia, seizures syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Multiple congenital anomalies, hypotonia, seizures syndrome	Is a	Carbohydrate-deficient glycoprotein syndrome	true	Inferred relationship	Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome	Is a	Poor muscle tone	true	Inferred relationship	Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Multiple congenital anomalies, hypotonia, seizures syndrome	Is a	Seizure disorder	true	Inferred relationship	Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	3
Multiple congenital anomalies, hypotonia, seizures syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Multiple congenital anomalies, hypotonia, seizures syndrome	Is a	Disorder of skeletal muscle	true	Inferred relationship	Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Multiple congenital anomalies, hypotonia, seizures syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Multiple congenital anomalies, hypotonia, seizures syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	2
Multiple congenital anomalies, hypotonia, seizures syndrome	Interprets	Muscle tone	true	Inferred relationship	Existential restriction modifier	4
Multiple congenital anomalies, hypotonia, seizures syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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