763743003: Intellectual disability, spasticity, ectrodactyly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of back\Finding of spinal region\Disorder of spinal region\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Intellectual disability, spasticity, ectrodactyly syndrome

\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome

\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome

\Central nervous system finding\Finding of spinal cord\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Central nervous system finding\Disorder of the central nervous system\Spastic syndrome\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Central nervous system finding\Disorder of the central nervous system\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Intellectual disability, spasticity, ectrodactyly syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, spasticity, ectrodactyly syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, spasticity, ectrodactyly syndrome

\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\...

\Paralytic syndrome of both lower limbs\Paraplegia\...

\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome

\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome

\Complete bilateral paralysis\Paraplegia\...

\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome

\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of body system\Neurological disorder\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of body system\Neurological disorder\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spastic syndrome\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of back\Disorder of spinal region\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Chronic disease\Chronic nervous system disorder\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3643599017 Jancar syndrome en Synonym Active Case sensitive SNOMED CT core

3643600019 Intellectual disability, spasticity, ectrodactyly syndrome en Synonym Active Case insensitive SNOMED CT core

3643601015 Intellectual disability, spasticity, ectrodactyly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3643602010 A rare intellectual disability syndrome with characteristics of severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability, spasticity, ectrodactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Intellectual disability, spasticity, ectrodactyly syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	1
Intellectual disability, spasticity, ectrodactyly syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	3
Intellectual disability, spasticity, ectrodactyly syndrome	Is a	Adactyly	false	Inferred relationship	Some
Intellectual disability, spasticity, ectrodactyly syndrome	Associated morphology	Absence	true	Inferred relationship	Some	2
Intellectual disability, spasticity, ectrodactyly syndrome	Is a	Autosomal recessive hereditary spastic paraplegia	true	Inferred relationship	Some
Intellectual disability, spasticity, ectrodactyly syndrome	Is a	Chronic mental disorder	false	Inferred relationship	Some
Intellectual disability, spasticity, ectrodactyly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Intellectual disability, spasticity, ectrodactyly syndrome	Clinical course	Progressive	true	Inferred relationship	Some	3
Intellectual disability, spasticity, ectrodactyly syndrome	Finding site	Structure of lower limb	false	Inferred relationship	Some	4
Intellectual disability, spasticity, ectrodactyly syndrome	Finding site	Spinal cord structure	true	Inferred relationship	Some	1
Intellectual disability, spasticity, ectrodactyly syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Intellectual disability, spasticity, ectrodactyly syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Intellectual disability, spasticity, ectrodactyly syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Intellectual disability, spasticity, ectrodactyly syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Intellectual disability, spasticity, ectrodactyly syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Intellectual disability, spasticity, ectrodactyly syndrome	Interprets	Movement	true	Inferred relationship	Some	7
Intellectual disability, spasticity, ectrodactyly syndrome	Finding site	Structure of right lower limb	true	Inferred relationship	Some	4
Intellectual disability, spasticity, ectrodactyly syndrome	Finding site	Structure of left lower limb	true	Inferred relationship	Some	8
Intellectual disability, spasticity, ectrodactyly syndrome	Interprets	Movement observable	true	Inferred relationship	Some	9
Intellectual disability, spasticity, ectrodactyly syndrome	Has interpretation	Absent	true	Inferred relationship	Some	9
Intellectual disability, spasticity, ectrodactyly syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Intellectual disability, spasticity, ectrodactyly syndrome	Is a	Ectrodactyly	true	Inferred relationship	Some
Intellectual disability, spasticity, ectrodactyly syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Intellectual disability, spasticity, ectrodactyly syndrome	Is a	Congenital paraplegia	false	Inferred relationship	Some
Intellectual disability, spasticity, ectrodactyly syndrome	Is a	Spastic paraplegia	false	Inferred relationship	Some
Intellectual disability, spasticity, ectrodactyly syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Intellectual disability, spasticity, ectrodactyly syndrome	Finding site	Structure of central nervous system	false	Inferred relationship	Some	3
Intellectual disability, spasticity, ectrodactyly syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
Intellectual disability, spasticity, ectrodactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Intellectual disability, spasticity, ectrodactyly syndrome	Finding site	Entire digit	true	Inferred relationship	Some	2
Intellectual disability, spasticity, ectrodactyly syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Intellectual disability, spasticity, ectrodactyly syndrome	Finding site	Structure of lower limb	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Strength reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3643599017	Jancar syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3643600019	Intellectual disability, spasticity, ectrodactyly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3643601015	Intellectual disability, spasticity, ectrodactyly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3643602010	A rare intellectual disability syndrome with characteristics of severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).	en	Definition	Active	Case sensitive	SNOMED CT core