1222671009: 3-methylglutaconic aciduria type 8 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of neonate\Neonatal disorder\Neonatal metabolic disorder\3-methylglutaconic aciduria type 8
• \Disease\Genetic disease\3-methylglutaconic aciduria type 8
• \Disease\Disorder of fetus or newborn\Neonatal disorder\Neonatal metabolic disorder\3-methylglutaconic aciduria type 8
• \Disease\Metabolic disease\Neonatal metabolic disorder\3-methylglutaconic aciduria type 8
• \Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\3-Methylglutaconic aciduria\3-methylglutaconic aciduria type 8

Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5048441010	3-methylglutaconic aciduria type 8	en	Synonym	Active	Case insensitive	SNOMED CT core
5048442015	3-methylglutaconic aciduria type 8 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5048443013	A rare organic aciduria characterized by neonatal onset of hypotonia, recurrent apneic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs and seizures. Other reported features include microcephaly, sensorineural deafness, bradycardia and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy.	en	Definition	Active	Case sensitive	SNOMED CT core
5048444019	A rare organic aciduria characterised by neonatal onset of hypotonia, recurrent apnoeic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs and seizures. Other reported features include microcephaly, sensorineural deafness, bradycardia and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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