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

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

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

\Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
\Finding of limb structure\Disorder of extremity (disorder)\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)\Paraplegia\Chronic paraplegia (disorder)\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)\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 (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\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 (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
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\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 (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\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Paralytic syndrome of both lower limbs (disorder)\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)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of body system\Disorder of nervous system (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 body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\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)\Disorder of the central nervous system (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\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Mental disorder\Chronic mental disorder\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Chronic disease\Chronic mental disorder\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental 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 (disorder)\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 (disorder)\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 (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3643599017 Jancar syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3643600019 Intellectual disability, spasticity, ectrodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

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

4164831000052110 syndrom med intellektuell funktionsnedsättning, spasticitet och ektrodaktyli 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
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 (body structure)	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 (morphologic abnormality)	false	Inferred relationship	Some	2
Intellectual disability, spasticity, ectrodactyly syndrome	Finding site	Lower limb structure	false	Inferred relationship	Some	1
Intellectual disability, spasticity, ectrodactyly syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Intellectual disability, spasticity, ectrodactyly syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Intellectual disability, spasticity, ectrodactyly syndrome	Pathological process (attribute)	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 (morphologic abnormality)	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	true	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 (qualifier value)	true	Inferred relationship	Some	3
Intellectual disability, spasticity, ectrodactyly syndrome	Finding site	Lower limb structure	true	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 (morphologic abnormality)	true	Inferred relationship	Some	1

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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643600019	Intellectual disability, spasticity, ectrodactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643601015	Intellectual disability, spasticity, ectrodactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4164831000052110	syndrom med intellektuell funktionsnedsättning, spasticitet och ektrodaktyli	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)