609225004: Developmental regression (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Developmental disorder\Developmental regression

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2013. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2958423017 Developmental regression en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2958916013 Developmental regression (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5985541000241112 régression du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5985551000241110 régression développementale 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
Developmental regression	Is a	Developmental disorder	true	Inferred relationship	Some
Developmental regression	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Childhood disintegrative disorder	Is a	True	Developmental regression	Inferred relationship	Some
A rare mitochondrial disease characterized by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated.	Is a	True	Developmental regression	Inferred relationship	Some

This concept is not in any reference sets