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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Spastic tetraplegia (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Finding of movement (finding)\Movement disorder\Paralytic syndrome\Paralytic syndrome of all four limbs (disorder)\Tetraplegia\Spastic tetraplegia (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Finding of movement (finding)\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Tetraplegia\Spastic tetraplegia (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of all four limbs (disorder)\Tetraplegia\Spastic tetraplegia (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Tetraplegia\Spastic tetraplegia (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \General finding of soft tissue\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic tetraplegia (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Functional finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Functional finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\...
• \Paralytic syndrome of all four limbs (disorder)\Tetraplegia\Spastic tetraplegia (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Complete bilateral paralysis\Tetraplegia\Spastic tetraplegia (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\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\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome of all four limbs (disorder)\Tetraplegia\Spastic tetraplegia (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Disorder of body system\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\Disorder of body system\Disorder of nervous system (disorder)\Complete bilateral paralysis\Tetraplegia\Spastic tetraplegia (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic tetraplegia (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Spastic tetraplegia (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of all four limbs (disorder)\Tetraplegia\Spastic tetraplegia (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Tetraplegia\Spastic tetraplegia (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
• \Disease\Developmental disorder\Developmental delay\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
5399884011	A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by 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
5399885012	A rare autosomal ichthyosis syndrome with prominent neurologic signs characterised by 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

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

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