1237623009: Congenital insensitivity to pain with severe intellectual disability (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Congenital insensitivity to pain with severe intellectual disability (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Congenital insensitivity to pain with severe intellectual disability (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Congenital insensitivity to pain with severe intellectual disability (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Congenital insensitivity to pain with severe intellectual disability (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain with severe intellectual disability (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain with severe intellectual disability (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital insensitivity to pain with severe intellectual disability (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital insensitivity to pain with severe intellectual disability (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital insensitivity to pain with severe intellectual disability (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain with severe intellectual disability (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain with severe intellectual disability (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain with severe intellectual disability (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain with severe intellectual disability (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain with severe intellectual disability (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain with severe intellectual disability (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of autonomic nervous system\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain with severe intellectual disability (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Congenital insensitivity to pain with severe intellectual disability (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Congenital insensitivity to pain with severe intellectual disability (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5100089011	Congenital analgesia with severe intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5100090019	Congenital absence of pain with severe intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5100091015	Congenital insensitivity to pain with severe intellectual disability (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5100092010	Congenital insensitivity to pain with severe intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5100093017	Congenital insensitivity to pain with preserved temperature sensation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5100094011	Congenital insensitivity to pain with severe non-progressive cognitive delay	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400317013	Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behavior and strength. Affected cases retained hot and cold perception.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400318015	Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterised by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behaviour and strength. Affected cases retained hot and cold perception.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5100089011	Congenital analgesia with severe intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5100090019	Congenital absence of pain with severe intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5100091015	Congenital insensitivity to pain with severe intellectual disability (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5100092010	Congenital insensitivity to pain with severe intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5100093017	Congenital insensitivity to pain with preserved temperature sensation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5100094011	Congenital insensitivity to pain with severe non-progressive cognitive delay	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5100098014	A rare autosomal recessive hereditary sensory and autonomic neuropathy characterised by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay and normal motor movement/behaviour and strength. Affected cases retain hot and cold perception.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5100099018	A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay and normal motor movement/behavior and strength. Affected cases retain hot and cold perception.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400317013	Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behavior and strength. Affected cases retained hot and cold perception.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400318015	Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterised by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behaviour and strength. Affected cases retained hot and cold perception.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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