732246009: X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Finding of limb structure\Muscle weakness of limb\Muscle weakness of upper limb\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of left upper extremity\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of right upper extremity\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Finding of limb structure\Finding of lower limb\Paresis of lower limb\Paresis of right lower limb\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Finding of limb structure\Finding of lower limb\Paresis of lower limb\Paresis of left lower limb\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Finding of limb structure\Finding of upper limb\Muscle weakness of upper limb\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of left upper extremity\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of right upper extremity\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Muscle weakness of limb\Muscle weakness of upper limb\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Paresis of lower limb\Paresis of right lower limb\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Paresis of lower limb\Paresis of left lower limb\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Posterior pituitary disorder\Diabetes insipidus\Familial diabetes insipidus\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Central nervous system finding\Disorder of the central nervous system\Spastic syndrome\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Posterior pituitary disorder\Diabetes insipidus\Familial diabetes insipidus\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Posterior pituitary disorder\Diabetes insipidus\Familial diabetes insipidus\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Posterior pituitary disorder\Diabetes insipidus\Familial diabetes insipidus\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Muscle weakness of limb\Muscle weakness of upper limb\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Paresis of lower limb\Paresis of right lower limb\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Paresis of lower limb\Paresis of left lower limb\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Muscle weakness of limb\Muscle weakness of upper limb\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Paresis of lower limb\Paresis of right lower limb\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Paresis of lower limb\Paresis of left lower limb\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Posterior pituitary disorder\Diabetes insipidus\Familial diabetes insipidus\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Posterior pituitary disorder\Diabetes insipidus\Familial diabetes insipidus\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spastic syndrome\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Posterior pituitary disorder\Diabetes insipidus\Familial diabetes insipidus\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of extremity\Disorder of upper limb\Disorder of left upper extremity\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of extremity\Disorder of upper limb\Disorder of right upper extremity\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Posterior pituitary disorder\Diabetes insipidus\Familial diabetes insipidus\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Metabolic disease\Purine and pyrimidine metabolism disorder\Disorder of purine metabolism\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Metabolic disease\Metabolic disorder of transport\Diabetes insipidus\Familial diabetes insipidus\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Congenital disease\Leber congenital amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Tetraparesis\Spastic tetraparesis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3464526014	X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3464527017	X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3901539010	A rare genetic neurometabolic disease with characteristics of severe intellectual disability, spastic quadriparesis, Leber congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter) described on magnetic resonance imaging have been reported. High prenatal alpha fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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