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725286002: Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3440703015 Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3440704014 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3440705010 3-hydroxy-3-methylglutaryl-CoA synthase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3440706011 Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3440707019 HMG-coenzyme A synthase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3440708012 A rare autosomal recessively inherited disorder of ketone body metabolism, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and in rare cases coma. Patients are mostly asymptomatic between acute episodes. This disease requires an early diagnosis in order to avoid hypoglycemic crisis that can lead to permanent brain damage or death. Caused by homozygous or compound heterozygous mutation in the HMGCS2 gene on chromosome 1p12. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core US English: Preferred (foundation metadata concept)
3440709016 A rare autosomal recessively inherited disorder of ketone body metabolism, characterised clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycaemia and in rare cases coma. Patients are mostly asymptomatic between acute episodes. This disease requires an early diagnosis in order to avoid hypoglycaemic crisis that can lead to permanent brain damage or death. Caused by homozygous or compound heterozygous mutation in the HMGCS2 gene on chromosome 1p12. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder) Is a Disorder of fatty acid metabolism (disorder) true Inferred relationship Some
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder) Is a Specific enzyme deficiency true Inferred relationship Some
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder) Occurrence Congenital true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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