782723007: Severe intellectual disability, progressive spastic diplegia syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Diplegia (disorder)\Spastic diplegia\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Finding of movement\Movement disorder\Paralytic syndrome\Diplegia (disorder)\Spastic diplegia\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Finding of movement\Motor dysfunction\Paralysis (finding)\Spastic paralysis\Spastic diplegia\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Diplegia (disorder)\Spastic diplegia\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \General finding of soft tissue\Spasticity\Spastic paralysis\Spastic diplegia\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Spastic diplegia\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Muscle finding (finding)\Finding of muscle tone (finding)\Increased muscle tone\Spasticity\Spastic paralysis\Spastic diplegia\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Spastic diplegia\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Musculoskeletal finding (finding)\Spasticity\Spastic paralysis\Spastic diplegia\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Spastic diplegia\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Neurological finding\Motor nervous system finding (finding)\Motor dysfunction\Paralysis (finding)\...
• \Spastic paralysis\Spastic diplegia\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Paralytic syndrome\Diplegia (disorder)\Spastic diplegia\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Spastic diplegia\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Spastic diplegia\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Disease\Disorder of limb\Diplegia (disorder)\Spastic diplegia\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Disease\Movement disorder\Paralytic syndrome\Diplegia (disorder)\Spastic diplegia\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Spastic diplegia\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755493012	Severe intellectual disability, progressive spastic diplegia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755494018	Severe intellectual disability, progressive spastic diplegia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755495017	A rare genetic syndromic intellectual disability disorder characterised by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioural anomalies (autistic features, aggression or auto-aggressive behaviour, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755496016	A rare genetic syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755493012	Severe intellectual disability, progressive spastic diplegia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755494018	Severe intellectual disability, progressive spastic diplegia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755495017	A rare genetic syndromic intellectual disability disorder characterised by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioural anomalies (autistic features, aggression or auto-aggressive behaviour, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755496016	A rare genetic syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3395531001000114	Schwere Intelligenzminderung-progressive spastische Diplegie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3395531001000114	Schwere Intelligenzminderung-progressive spastische Diplegie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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