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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Hereditary disorder of the visual system\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disorder of eye movements\Strabismus\Oculomotor apraxia (disorder)\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\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\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\affection d'un système corporel\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\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye movements\Strabismus\Oculomotor apraxia (disorder)\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\affection d'un système corporel\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\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\trouble métabolique\Chronic metabolic disorder\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\trouble métabolique\troubles du métabolisme des minéraux (trouble)\Disorder of trace mineral metabolism\Disorder of zinc metabolism\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\maladie chronique\Chronic metabolic disorder\Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)
• \Disease\maladie chronique\trouble neurologique chronique\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
4669056013	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
4669057016	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

This concept is not in any reference sets

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