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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Severe intellectual disability\Congenital insensitivity to pain with severe intellectual disability
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Severe intellectual disability\Congenital insensitivity to pain with severe intellectual disability
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability\Congenital insensitivity to pain with severe intellectual disability
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability\Congenital insensitivity to pain with severe intellectual disability
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain with severe intellectual disability
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain with severe intellectual disability
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital insensitivity to pain with severe intellectual disability
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital insensitivity to pain with severe intellectual disability
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain with severe intellectual disability
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain with severe intellectual disability
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain with severe intellectual disability
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain with severe intellectual disability
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain with severe intellectual disability
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain with severe intellectual disability
• \Disease\Disorder of body system\Neurological disorder\Disorder of autonomic nervous system\Inherited autonomic nervous system disorder\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain with severe intellectual disability
• \Disease\Congenital disease\Congenital insensitivity to pain with severe intellectual disability
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe intellectual disability\Congenital insensitivity to pain with severe intellectual disability
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital insensitivity to pain with severe intellectual disability

Status: current, Primitive. 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	Active	Case insensitive	SNOMED CT core
5100090019	Congenital absence of pain with severe intellectual disability	en	Synonym	Active	Case insensitive	SNOMED CT core
5100091015	Congenital insensitivity to pain with severe intellectual disability (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5100092010	Congenital insensitivity to pain with severe intellectual disability	en	Synonym	Active	Case insensitive	SNOMED CT core
5100093017	Congenital insensitivity to pain with preserved temperature sensation	en	Synonym	Active	Case insensitive	SNOMED CT core
5100094011	Congenital insensitivity to pain with severe non-progressive cognitive delay	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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