777999008: Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Neurological lesion\Leucodystrophy\Hypomyelination with brain stem and spinal cord involvement and leg spasticity
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\...
• \Leucodystrophy\Hypomyelination with brain stem and spinal cord involvement and leg spasticity
• \Hereditary degenerative disease of central nervous system\Hypomyelination with brain stem and spinal cord involvement and leg spasticity
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hypomyelination with brain stem and spinal cord involvement and leg spasticity
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypomyelination with brain stem and spinal cord involvement and leg spasticity
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Hypomyelination with brain stem and spinal cord involvement and leg spasticity
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hypomyelination with brain stem and spinal cord involvement and leg spasticity
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hypomyelination with brain stem and spinal cord involvement and leg spasticity
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Leucodystrophy\Hypomyelination with brain stem and spinal cord involvement and leg spasticity
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hypomyelination with brain stem and spinal cord involvement and leg spasticity
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\Hypomyelination with brain stem and spinal cord involvement and leg spasticity
• \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\Hypomyelination with brain stem and spinal cord involvement and leg spasticity

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3736350014	HBSL - hypomyelination, brain stem, spinal cord, leg spasticity	en	Synonym	Active	Case sensitive	SNOMED CT core
3736351013	Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3736352018	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	en	Synonym	Active	Case insensitive	SNOMED CT core
3732003010	A rare genetic leukodystrophy disorder with characteristics of diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia and motor developmental delay as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts. Caused by homozygous or compound heterozygous mutation in the DARS gene on chromosome 2q21.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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