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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3755494018 Severe intellectual disability, progressive spastic diplegia syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Severe intellectual disability, progressive spastic diplegia syndrome Is a Spastic diplegia true Inferred relationship Some
Severe intellectual disability, progressive spastic diplegia syndrome Occurrence Congenital true Inferred relationship Some 1
Severe intellectual disability, progressive spastic diplegia syndrome Is a Severe intellectual disability true Inferred relationship Some
Severe intellectual disability, progressive spastic diplegia syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Severe intellectual disability, progressive spastic diplegia syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Severe intellectual disability, progressive spastic diplegia syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Severe intellectual disability, progressive spastic diplegia syndrome Finding site Face structure true Inferred relationship Some 1
Severe intellectual disability, progressive spastic diplegia syndrome Finding site Structure of nervous system true Inferred relationship Some 2
Severe intellectual disability, progressive spastic diplegia syndrome Finding site Limb structure false Inferred relationship Some 3
Severe intellectual disability, progressive spastic diplegia syndrome Interprets Intellectual ability false Inferred relationship Some 4
Severe intellectual disability, progressive spastic diplegia syndrome Has interpretation Impaired false Inferred relationship Some 4
Severe intellectual disability, progressive spastic diplegia syndrome Interprets Adaptation behaviour false Inferred relationship Some 5
Severe intellectual disability, progressive spastic diplegia syndrome Has interpretation Impaired false Inferred relationship Some 5
Severe intellectual disability, progressive spastic diplegia syndrome Is a Neurological disorder true Inferred relationship Some
Severe intellectual disability, progressive spastic diplegia syndrome Interprets Movement true Inferred relationship Some 5
Severe intellectual disability, progressive spastic diplegia syndrome Interprets Movement observable true Inferred relationship Some 4
Severe intellectual disability, progressive spastic diplegia syndrome Has interpretation Absent true Inferred relationship Some 4
Severe intellectual disability, progressive spastic diplegia syndrome Finding site Skeletal muscle structure of limb true Inferred relationship Some 3
Severe intellectual disability, progressive spastic diplegia syndrome Interprets Muscle tone true Inferred relationship Some 6
Severe intellectual disability, progressive spastic diplegia syndrome Has interpretation Increased true Inferred relationship Some 6
Severe intellectual disability, progressive spastic diplegia syndrome Interprets Adaptation behaviour true Inferred relationship Some 7
Severe intellectual disability, progressive spastic diplegia syndrome Has interpretation Impaired true Inferred relationship Some 7
Severe intellectual disability, progressive spastic diplegia syndrome Interprets Intellectual ability true Inferred relationship Some 8
Severe intellectual disability, progressive spastic diplegia syndrome Has interpretation Impaired true Inferred relationship Some 8

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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