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

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of extremity (disorder)\Diplegia\Spastic diplegia\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)

\Finding of head and neck region\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)

\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)
\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\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Diplegia\Spastic diplegia\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Diplegia\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\Mental disorder\Developmental mental disorder\Intellectual disability\Severe intellectual disability (disorder)\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
\Disease\Congenital disease (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)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Severe intellectual disability (disorder)\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
\Disease\Developmental 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

4346921000052113 syndrom med svår intellektuell funktionsnedsättning och progressiv spastisk diplegi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe intellectual disability, progressive spastic diplegia syndrome (disorder)	Is a	Spastic diplegia	true	Inferred relationship	Some
Severe intellectual disability, progressive spastic diplegia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Severe intellectual disability, progressive spastic diplegia syndrome (disorder)	Is a	Severe intellectual disability (disorder)	true	Inferred relationship	Some
Severe intellectual disability, progressive spastic diplegia syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Severe intellectual disability, progressive spastic diplegia syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Severe intellectual disability, progressive spastic diplegia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Severe intellectual disability, progressive spastic diplegia syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Severe intellectual disability, progressive spastic diplegia syndrome (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2
Severe intellectual disability, progressive spastic diplegia syndrome (disorder)	Finding site	Limb structure	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
4346921000052113	syndrom med svår intellektuell funktionsnedsättning och progressiv spastisk diplegi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)