766931003: syndrome de neuropathie hypomyélinisante-arthrogrypose (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\anomalie morphologique congénitale\Arthrogryposis\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \constatation à propos du mouvement\constatation à propos du mouvement de l'articulation\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \constatation à propos du mouvement\constatation à propos du mouvement de l'articulation\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \constatation à propos du mouvement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \constatation à propos du mouvement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \constatation à propos du mouvement\trouble moteur\Akinesia\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Neurological finding\Motor nervous system finding\trouble moteur\Akinesia\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Hypomyelination neuropathy arthrogryposis syndrome (disorder)

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
3663207018	Hypomyelination neuropathy arthrogryposis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3663208011	Hypomyelination neuropathy arthrogryposis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
768621000241119	syndrome de neuropathie hypomyélinisante-arthrogrypose (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
897911000172112	syndrome de neuropathie hypomyélinisante-arthrogrypose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3663209015	A rare genetic limb malformation syndrome with characteristics of multiple congenital distal joint contractures (including talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (such as lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.	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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