770438007: Infantile spasm and broad thumb syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Infantile spasm and broad thumb syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of thumb\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome
\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
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome

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

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

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\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 of head\Disorder of face\Congenital anomaly of face\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 of head\Congenital anomaly of head\Congenital anomaly of face\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 of head\Disorder of brain\Seizure disorder\Epilepsy\Infantile spasm and broad thumb syndrome

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Infantile spasm and broad thumb syndrome

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

\Epileptic seizure\Motor epileptic seizure\Epileptic spasms\Infantile spasm and broad thumb syndrome

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

\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Infantile spasm and broad thumb syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Infantile spasm and broad thumb syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome
\Disease\Disorder of extremity\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome
\Disease\Disorder of extremity\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Infantile spasm and broad thumb syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\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
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\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
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Infantile spasm and broad thumb syndrome
\Disease\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
\Disease\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
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\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
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Infantile spasm and broad thumb syndrome
\Disease\Developmental 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
\Disease\Developmental 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
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\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
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Infantile spasm and broad thumb syndrome
\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

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

Descriptions:

Id Description Lang Type Status Case? Module

3700864012 Infantile spasms, broad thumbs syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3700865013 Infantile spasm and broad thumb syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3700866014 Infantile spasm and broad thumb syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3700867017 Tsao Ellingson syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile spasm and broad thumb syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Infantile spasm and broad thumb syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Infantile spasm and broad thumb syndrome	Is a	Congenital malformation of thumb	true	Inferred relationship	Existential restriction modifier
Infantile spasm and broad thumb syndrome	Is a	Epilepsy	true	Inferred relationship	Existential restriction modifier
Infantile spasm and broad thumb syndrome	Is a	Broad thumbs	true	Inferred relationship	Existential restriction modifier
Infantile spasm and broad thumb syndrome	Interprets	Form of thumb	false	Inferred relationship	Existential restriction modifier	5
Infantile spasm and broad thumb syndrome	Associated morphology	Congenital growth alteration	false	Inferred relationship	Existential restriction modifier	1
Infantile spasm and broad thumb syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Infantile spasm and broad thumb syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Infantile spasm and broad thumb syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Infantile spasm and broad thumb syndrome	Is a	Disorder of skeletal AND/OR smooth muscle	true	Inferred relationship	Existential restriction modifier
Infantile spasm and broad thumb syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Infantile spasm and broad thumb syndrome	Finding site	Thumb structure	true	Inferred relationship	Existential restriction modifier	1
Infantile spasm and broad thumb syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Infantile spasm and broad thumb syndrome	Is a	Infantile spasm	false	Inferred relationship	Existential restriction modifier
Infantile spasm and broad thumb syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Infantile spasm and broad thumb syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Infantile spasm and broad thumb syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	3
Infantile spasm and broad thumb syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	4
Infantile spasm and broad thumb syndrome	Finding site	Skeletal and/or smooth muscle structure	true	Inferred relationship	Existential restriction modifier	2
Infantile spasm and broad thumb syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Infantile spasm and broad thumb syndrome	Associated morphology	Growth alteration	true	Inferred relationship	Existential restriction modifier	1
Infantile spasm and broad thumb syndrome	Is a	Epileptic spasms	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3700864012	Infantile spasms, broad thumbs syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3700865013	Infantile spasm and broad thumb syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3700866014	Infantile spasm and broad thumb syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3700867017	Tsao Ellingson syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module