124314009: Deficiency of adenosine kinase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\Deficiency of adenosine kinase

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

204033016 Deficiency of adenosine kinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727927016 Deficiency of adenosine kinase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4772141000241118 déficit en adénosine-kinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of adenosine kinase	Is a	Deficiency of transferase	true	Inferred relationship	Some
Deficiency of adenosine kinase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.	Due to	True	Deficiency of adenosine kinase	Inferred relationship	Some	2

This concept is not in any reference sets