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

\Mental state, behavior and/or psychosocial function finding\Behavior 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 extremity\Disorder of left lower extremity\Paralytic syndrome of bilateral 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 extremity\Disorder of left lower extremity\Paralytic syndrome of bilateral 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 extremity\Disorder of right lower extremity\Paralytic syndrome of bilateral 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 extremity\Disorder of right lower extremity\Paralytic syndrome of bilateral 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 extremity\Disorder of left lower extremity\Paralytic syndrome of bilateral 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 extremity\Disorder of left lower extremity\Paralytic syndrome of bilateral 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 extremity\Disorder of right lower extremity\Paralytic syndrome of bilateral 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 extremity\Disorder of right lower extremity\Paralytic syndrome of bilateral 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 bilateral 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 bilateral 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 bilateral 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 bilateral 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 disorder\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 disorder\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\Finding of intellectual ability\Intellectual disability\Intellectual disability, spasticity, ectrodactyly syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Intellectual disability, spasticity, ectrodactyly syndrome

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

\Paralytic syndrome of bilateral 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\Disorder of nervous 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\Disorder of nervous system\Chronic nervous system disorder\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of body system\Disorder of nervous system\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\Disorder of nervous system\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\Disorder of nervous system\Disorder of the central nervous system\Spinal cord disorder\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 extremity\Disorder of left lower extremity\Paralytic syndrome of bilateral 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 extremity\Disorder of left lower extremity\Paralytic syndrome of bilateral 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 extremity\Disorder of right lower extremity\Paralytic syndrome of bilateral 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 extremity\Disorder of right lower extremity\Paralytic syndrome of bilateral 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 malformation\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 malformation\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral 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 bilateral 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 disorder\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 malformation\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 malformation\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3643599017 Jancar syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3643600019 Intellectual disability, spasticity, ectrodactyly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3643601015 Intellectual disability, spasticity, ectrodactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

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
3643599017	Jancar syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3643600019	Intellectual disability, spasticity, ectrodactyly syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3643601015	Intellectual disability, spasticity, ectrodactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module