782745008: Lipoyl transferase 1 deficiency (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Inborn error of metabolism\Lipoyl transferase 1 deficiency (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lipoyl transferase 1 deficiency (disorder)
• \trouble métabolique\Mitochondrial cytopathy\Lipoyl transferase 1 deficiency (disorder)
• \trouble métabolique\Inborn error of metabolism\Lipoyl transferase 1 deficiency (disorder)
• \Congenital disease\Inborn error of metabolism\Lipoyl transferase 1 deficiency (disorder)

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
3755571016	Lipoyl transferase 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755572011	Lipoyl transferase 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755573018	A very rare inborn error of metabolism disorder with a highly variable phenotype. Typical characteristics are neonatal to infancy-onset of seizures, psychomotor delay and abnormal muscle tone that may include hypo and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties and pulmonary hypertension. There is evidence the disease is caused by compound heterozygous mutation in the LIPT1 gene on chromosome 2q11.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755574012	A very rare inborn error of metabolism disorder with a highly variable phenotype. Typical characteristics are neonatal to infancy-onset of seizures, psychomotor delay and abnormal muscle tone that may include hypo and/or hypertonia, resulting in generalised weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties and pulmonary hypertension. There is evidence the disease is caused by compound heterozygous mutation in the LIPT1 gene on chromosome 2q11.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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