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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \constatation à propos du dos\Finding of spinal region\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
• \constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \constatation à propos du système nerveux central\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Complete bilateral paralysis (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Complete bilateral paralysis (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\trouble mental\Chronic mental disorder\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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 (disorder)\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\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\maladie chronique\Chronic mental disorder\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\maladie chronique\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Intellectual disability, spasticity, ectrodactyly syndrome
• \Disease\trouble du développement\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

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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