1237515001: Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Neurological lesion\Leucodystrophy\Alkaline ceramidase 3 deficiency
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\...
• \Leucodystrophy\Alkaline ceramidase 3 deficiency
• \Hereditary degenerative disease of central nervous system\Alkaline ceramidase 3 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Alkaline ceramidase 3 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Alkaline ceramidase 3 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Alkaline ceramidase 3 deficiency
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Alkaline ceramidase 3 deficiency
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Alkaline ceramidase 3 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Alkaline ceramidase 3 deficiency
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Leucodystrophy\Alkaline ceramidase 3 deficiency
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Alkaline ceramidase 3 deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\Alkaline ceramidase 3 deficiency
• \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\Alkaline ceramidase 3 deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Alkaline ceramidase 3 deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5099597018	Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5099598011	Alkaline ceramidase 3 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
5099599015	ACER3-related early childhood-onset progressive leukodystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
5099600017	Leukodystrophy due to alkaline ceramidase 3 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
5099601018	ACER3-related early childhood-onset progressive leucodystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
5099602013	Leucodystrophy due to alkaline ceramidase 3 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
5099665013	A rare genetic disorder with characteristics of infantile onset of stagnation and regression of motor and language development resulting in complete lack of communication and purposeful movement. Further neurological manifestations include truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy and neurogenic bladder. Patients also present multiple contractures, late-onset relative macrocephaly, short stature and facial dysmorphism (including coarse facial features, sloping forehead, thick eyebrows, low-set ears, prominent nose, flat philtrum, and prominent lower lip). Brain imaging at advanced stages shows diffuse abnormal white matter signal and severe atrophy. Sural nerve biopsy reveals decreased myelination.	en	Definition	Active	Case sensitive	SNOMED CT core

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