770438007: Infantile spasm and broad thumb syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Epileptic seizure (finding)\Motor epileptic seizure (finding)\Epileptic spasms\Infantile spasm and broad thumb syndrome (disorder)
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Infantile spasm and broad thumb syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Infantile spasm and broad thumb syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Infantile spasm and broad thumb syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Infantile spasm and broad thumb syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Infantile spasm and broad thumb syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Infantile spasm and broad thumb syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Infantile spasm and broad thumb syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Finding of digit of hand\Finding of thumb\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Finding of digit of hand\Finding of thumb\Broad thumbs\Infantile spasm and broad thumb syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome (disorder)
• \Central nervous system finding\Finding of brain\Seizure\Epileptic seizure (finding)\Motor epileptic seizure (finding)\Epileptic spasms\Infantile spasm and broad thumb syndrome (disorder)
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Infantile spasm and broad thumb syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Infantile spasm and broad thumb syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Infantile spasm and broad thumb syndrome (disorder)
• \Muscle finding (finding)\Disorder of muscle\Infantile spasm and broad thumb syndrome (disorder)
• \Neurological finding\Seizure related finding\Seizure\...
• \Epileptic seizure (finding)\Motor epileptic seizure (finding)\Epileptic spasms\Infantile spasm and broad thumb syndrome (disorder)
• \Seizure disorder\Epilepsy\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Disorder of muscle\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Infantile spasm and broad thumb syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3700864012	Infantile spasms, broad thumbs syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3700865013	Infantile spasm and broad thumb syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3700866014	Infantile spasm and broad thumb syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3700867017	Tsao Ellingson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404797019	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404798012	Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterised 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3700864012	Infantile spasms, broad thumbs syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3700865013	Infantile spasm and broad thumb syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3700866014	Infantile spasm and broad thumb syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3700867017	Tsao Ellingson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3700868010	A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (including 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3700869019	A rare neurologic disorder characterised by profound developmental delay, facial dysmorphism (including microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocoele 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404797019	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404798012	Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterised 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3386621001000115	Infantile Krampfanfälle - breite Daumen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6246921000241114	syndrome de Tsao-Ellingson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6246931000241111	syndrome de spasmes infantiles et pouces larges	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6246921000241114	syndrome de Tsao-Ellingson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6246931000241111	syndrome de spasmes infantiles et pouces larges	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3386621001000115	Infantile Krampfanfälle - breite Daumen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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