770438007: Infantile spasm and broad thumb syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Infantile spasm and broad thumb syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Infantile spasm and broad thumb syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Infantile spasm and broad thumb syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Infantile spasm and broad thumb syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Infantile spasm and broad thumb syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\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 of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Infantile spasm and broad thumb syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Infantile spasm and broad thumb syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of thumb\Congenital malformation of thumb (disorder)\Infantile spasm and broad thumb syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of thumb\Broad thumbs\Infantile spasm and broad thumb syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Infantile spasm and broad thumb syndrome (disorder)

\Central nervous system finding\Finding of brain\Seizure\Epileptic seizure\Motor epileptic seizure (finding)\Epileptic spasms (finding)\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 (disorder)\Seizure disorder\Epilepsy\Infantile spasm and broad thumb syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Infantile spasm and broad thumb syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Seizure\Epileptic seizure\Motor epileptic seizure (finding)\Epileptic spasms (finding)\Infantile spasm and broad thumb syndrome (disorder)
\Finding of brain\Seizure\Seizure disorder\Epilepsy\Infantile spasm and broad thumb syndrome (disorder)
\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Infantile spasm and broad thumb syndrome (disorder)

\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)

\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)
\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)
\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Infantile spasm and broad thumb syndrome (disorder)

\Muscle finding\Disorder of muscle\Infantile spasm and broad thumb syndrome (disorder)

\Neurological finding\Seizure related finding\Seizure\...

\Epileptic seizure\Motor epileptic seizure (finding)\Epileptic spasms (finding)\Infantile spasm and broad thumb syndrome (disorder)

\Seizure disorder\Epilepsy\Infantile spasm and broad thumb syndrome (disorder)

\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\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)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Infantile spasm and broad thumb syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Infantile spasm and broad thumb syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Infantile spasm and broad thumb syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Infantile spasm and broad thumb syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Infantile spasm and broad thumb syndrome (disorder)
\Disease\Disorder of limb (disorder)\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 (disorder)\Seizure disorder\Epilepsy\Infantile spasm and broad thumb syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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\Congenital disease (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\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Infantile spasm and broad thumb syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Infantile spasm and broad thumb syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Infantile spasm and broad thumb syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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\Congenital malformation\Congenital malformation syndrome (disorder)\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\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\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Infantile spasm and broad thumb syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Infantile spasm and broad thumb syndrome (disorder)
\Disease\Developmental 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

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

12701331000172112 syndrome de Tsao-Ellingson fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

12701341000172117 syndrome de spasmes infantiles et pouces larges fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4051181000172113 syndroom van Tsao-Ellingson nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4051191000172111 Tsao-Ellingson-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4051201000172114 syndroom van infantiele spasme en brede duimen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4051211000172112 syndroom van infantiele spasme en brede digiti I nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile spasm and broad thumb syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Infantile spasm and broad thumb syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Infantile spasm and broad thumb syndrome (disorder)	Is a	Congenital malformation of thumb (disorder)	true	Inferred relationship	Some
Infantile spasm and broad thumb syndrome (disorder)	Is a	Epilepsy	true	Inferred relationship	Some
Infantile spasm and broad thumb syndrome (disorder)	Is a	Broad thumbs	true	Inferred relationship	Some
Infantile spasm and broad thumb syndrome (disorder)	Interprets	Form of thumb	false	Inferred relationship	Some	5
Infantile spasm and broad thumb syndrome (disorder)	Associated morphology	Congenital growth alteration	false	Inferred relationship	Some	1
Infantile spasm and broad thumb syndrome (disorder)	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Infantile spasm and broad thumb syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Infantile spasm and broad thumb syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Infantile spasm and broad thumb syndrome (disorder)	Is a	Disorder of muscle	true	Inferred relationship	Some
Infantile spasm and broad thumb syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Infantile spasm and broad thumb syndrome (disorder)	Finding site	Thumb structure	true	Inferred relationship	Some	1
Infantile spasm and broad thumb syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Infantile spasm and broad thumb syndrome (disorder)	Is a	spasme infantile	false	Inferred relationship	Some
Infantile spasm and broad thumb syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Infantile spasm and broad thumb syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Infantile spasm and broad thumb syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	3
Infantile spasm and broad thumb syndrome (disorder)	Finding site	Cerebrum	true	Inferred relationship	Some	4
Infantile spasm and broad thumb syndrome (disorder)	Finding site	Skeletal and/or smooth muscle structure (body structure)	true	Inferred relationship	Some	2
Infantile spasm and broad thumb syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Infantile spasm and broad thumb syndrome (disorder)	Associated morphology	Growth alteration	true	Inferred relationship	Some	1
Infantile spasm and broad thumb syndrome (disorder)	Is a	Epileptic spasms (finding)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

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
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
12701331000172112	syndrome de Tsao-Ellingson	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
12701341000172117	syndrome de spasmes infantiles et pouces larges	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4051181000172113	syndroom van Tsao-Ellingson	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4051191000172111	Tsao-Ellingson-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4051201000172114	syndroom van infantiele spasme en brede duimen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4051211000172112	syndroom van infantiele spasme en brede digiti I	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)