732246009: X-gebonden syndroom van verstandelijke beperking, spasticiteit van extremiteit, retinadystrofie en arginine-vasopressinedeficiëntie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Vasopressin deficiency\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Vasopressin deficiency\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Severe intellectual disability (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Finding of body product\Polyuria (finding)\Arginine vasopressin-related polyuria (disorder)\...
• \Hereditary arginine vasopressin-related polyuria (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Vasopressin deficiency\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Finding of limb structure\Muscle weakness of limb (finding)\Muscle weakness of upper limb (finding)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Finding of limb structure\Finding of lower limb\Paresis of lower extremity\Paresis of right lower limb\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Finding of limb structure\Finding of lower limb\Paresis of lower extremity\Paresis of left lower limb\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Finding of limb structure\Finding of upper limb\Muscle weakness of upper limb (finding)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Urine finding\Polyuria (finding)\Arginine vasopressin-related polyuria (disorder)\...
• \Hereditary arginine vasopressin-related polyuria (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Vasopressin deficiency\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Finding of movement (finding)\Loss of motor function\Muscle weakness\Muscle weakness of limb (finding)\Muscle weakness of upper limb (finding)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Finding of movement (finding)\Loss of motor function\Muscle weakness\Paresis of lower extremity\Paresis of right lower limb\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Finding of movement (finding)\Loss of motor function\Muscle weakness\Paresis of lower extremity\Paresis of left lower limb\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Finding of movement (finding)\Movement disorder\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Muscle weakness of limb (finding)\Muscle weakness of upper limb (finding)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Paresis of lower extremity\Paresis of right lower limb\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Paresis of lower extremity\Paresis of left lower limb\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Vasopressin deficiency\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Vasopressin deficiency\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Severe intellectual disability (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Severe intellectual disability (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Muscle weakness of limb (finding)\Muscle weakness of upper limb (finding)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Paresis of lower extremity\Paresis of right lower limb\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Paresis of lower extremity\Paresis of left lower limb\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Muscle finding\Disorder of muscle\Hereditary myopathy (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Muscle weakness of limb (finding)\Muscle weakness of upper limb (finding)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Paresis of lower extremity\Paresis of right lower limb\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Paresis of lower extremity\Paresis of left lower limb\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Arginine vasopressin-related polyuria (disorder)\Hereditary arginine vasopressin-related polyuria (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Arginine vasopressin-related polyuria (disorder)\Vasopressin deficiency\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary arginine vasopressin-related polyuria (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \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, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of posterior pituitary\Vasopressin deficiency\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Vasopressin deficiency\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of muscle\Hereditary myopathy (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Vasopressin deficiency\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Movement disorder\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe intellectual disability (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3464527017	X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5309980016	X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5309981017	X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
14986091000146112	X-gebonden syndroom van verstandelijke beperking, spasticiteit van extremiteit, retinadystrofie en arginine-vasopressinedeficiëntie (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14986101000146117	X-gebonden syndroom van verstandelijke beperking, spasticiteit van extremiteit, retinadystrofie en arginine-vasopressinedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14986111000146115	X-gebonden syndroom van mentale retardatie, spasticiteit van extremiteit, retinadystrofie en centrale diabetes insipidus	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14986121000146113	X-gebonden syndroom van verstandelijke handicap, spasticiteit van extremiteit, retinadystrofie en centrale diabetes insipidus	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	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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