1217379007: NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Finding of limb structure\Disorder of extremity\Spastic tetraplegia\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Neurological lesion\Leucodystrophy\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of all four limbs\Tetraplegia\Spastic tetraplegia\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Tetraplegia\Spastic tetraplegia\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of all four limbs\Tetraplegia\Spastic tetraplegia\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Tetraplegia\Spastic tetraplegia\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Finding related to coordination / incoordination\Ataxia\Hereditary ataxia\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Central nervous system finding\Disorder of the central nervous system\...
• \Spastic syndrome\Spastic tetraplegia\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Degenerative disease of the central nervous system\Leucodystrophy\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Ear and auditory finding\Hearing finding\Decreased hearing\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Functional finding\Decline in functional status\Decreased hearing\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Functional finding\Hearing finding\Decreased hearing\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\...
• \Paralytic syndrome of all four limbs\Tetraplegia\Spastic tetraplegia\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Complete bilateral paralysis\Tetraplegia\Spastic tetraplegia\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Neurological disorder\Paralytic syndrome of all four limbs\Tetraplegia\Spastic tetraplegia\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Leucodystrophy\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Neurological disorder\Complete bilateral paralysis\Tetraplegia\Spastic tetraplegia\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spastic syndrome\Spastic tetraplegia\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Disorder of extremity\Spastic tetraplegia\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of all four limbs\Tetraplegia\Spastic tetraplegia\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Tetraplegia\Spastic tetraplegia\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Chronic disease\Chronic nervous system disorder\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
• \Disease\Developmental disorder\Developmental hereditary disorder\NKX6-2-related autosomal recessive hypomyelinating leucodystrophy

Status: current, Primitive. Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5036068014	NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
5036069018	NK6 homeobox 2-related autosomal recessive hypomyelinating leucodystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
5036070017	NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
5036071018	NKX6-2-related autosomal recessive hypomyelinating leucodystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
5036072013	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
5036073015	Autosomal recessive hypomyelinating leukodystrophy, progressive spastic ataxia	en	Synonym	Active	Case insensitive	SNOMED CT core
5036074014	SPAX8 - spastic ataxia 8	en	Synonym	Active	Case sensitive	SNOMED CT core
5036075010	Autosomal recessive hypomyelinating leucodystrophy, progressive spastic ataxia	en	Synonym	Active	Case insensitive	SNOMED CT core
5036076011	A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy and diffuse spinal cord volume loss.	en	Definition	Active	Case sensitive	SNOMED CT core
5036077019	A rare leucodystrophy characterised by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy and diffuse spinal cord volume loss.	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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