723437000: Infantile spasm (finding)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3424605016 Infantile spasm (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3424606015 Infantile spasm en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile spasm	Is a	Spasm	false	Inferred relationship	Some
Infantile spasm	Finding site	Skeletal and/or smooth muscle structure (body structure)	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Refractory infantile spasms (disorder)	Is a	False	Infantile spasm	Inferred relationship	Some
Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.	Is a	False	Infantile spasm	Inferred relationship	Some
Aicardi's syndrome	Is a	False	Infantile spasm	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)