1303585005: infantiel syndroom van neurodegeneratie, progressieve spasticiteit, verstandelijke beperking en laesies van witte stof van hersenen (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\...
• \Spastic syndrome (disorder)\Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
• \Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
• \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\Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5307046012	HPDL-related Leigh-like encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5307047015	Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5307048013	Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5307049017	HPDL-related infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5307050017	HPDL (4-hydroxyphenylpyruvate dioxygenase like) related infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
15095941000146111	infantiel syndroom van neurodegeneratie, progressieve spasticiteit, verstandelijke beperking en laesies van witte stof van hersenen (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
15095951000146114	syndroom van neurodegeneratie, progressieve spasticiteit, mentale retardatie en laesies van substantia alba bij zuigeling	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
15095961000146112	syndroom van neurodegeneratie, progressieve spasticiteit, verstandelijke handicap en laesies van substantia alba bij zuigeling	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
15095971000146118	infantiel syndroom van neurodegeneratie, progressieve spasticiteit, verstandelijke beperking en laesies van witte stof	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
15095981000146116	HPDL-gerelateerde Leigh-achtige encefalopathie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5307051018	A rare genetic neurological syndrome of variable severity with characteristics of progressive spasticity affecting predominantly the lower limbs. Most patients manifest global developmental delay, moderate to severe intellectual disability and white matter abnormalities in infancy complicated by variable features including seizures, episodic respiratory failure, joint contractures and ocular problems. Some patients have normal early development until later childhood followed by regression in motor, cognitive and language skills over time. Some patients manifest only spastic paraplegia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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