1187043002: Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disorder of eye movements\Strabismus\Oculomotor apraxia\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Oculomotor apraxia\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\Metabolic disease\Chronic metabolic disorder\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of trace mineral metabolism\Disorder of zinc metabolism\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\Chronic disease\Chronic metabolic disorder\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4669053017	Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669054011	Cerebrorenal syndrome Perez type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4669055012	Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399554014	A rare genetic disease characterized by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia, and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension, and a tendency for hyperkalemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399555010	A rare genetic disease characterised by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia, and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension, and a tendency for hyperkalaemia.	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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