1173998003: Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \constatation à propos du système nerveux central\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \affection de la tête\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability 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)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \Disease\affection de la tête\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \Disease\trouble mental\Chronic mental disorder\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \Disease\maladie chronique\Chronic mental disorder\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \Disease\maladie chronique\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \Disease\maladie chronique\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4639187018	Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4639188011	Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4639189015	A rare genetic neurological disorder with characteristics of postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech and dysarthria. Seizures and mildly dysmorphic features have been described in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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