1208936008: Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Spastic tetraplegia\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic tetraplegia\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \constatation fonctionnelle\Abnormal keratinisation\...
• \Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\Skin finding\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Paralytic syndrome of all four limbs (disorder)\Tetraplegia\Spastic tetraplegia\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Complete bilateral paralysis (disorder)\Tetraplegia\Spastic tetraplegia\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic tetraplegia\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\kératose\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\affection d'une extrémité\Spastic tetraplegia\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid metabolism\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\trouble du développement\retard de développement\Global developmental delay\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5013630014	ELOVL4 (elongation of very long chain fatty acids-like 4) related neuro ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5013631013	Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5013632018	Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5013633011	ELOVL4-related neuro ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5013634017	A rare autosomal ichthyosis syndrome with prominent neurologic signs and the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

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US English

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