719836007: X-linked distal arthrogryposis multiplex congenita (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\anomalie morphologique congénitale\Arthrogryposis\Amyoplasia congenita disruptive sequence\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\X-linked distal arthrogryposis multiplex congenita (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\X-linked distal arthrogryposis multiplex congenita (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\X-linked distal arthrogryposis multiplex congenita (disorder)
• \constatation à propos du mouvement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\X-linked distal arthrogryposis multiplex congenita (disorder)
• \constatation à propos du mouvement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked distal hereditary motor neuropathy\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease (disorder)\atrophie musculaire spinale (trouble)\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Inherited arthrogryposis\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked distal hereditary motor neuropathy\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked distal hereditary motor neuropathy\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease (disorder)\atrophie musculaire spinale (trouble)\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral motor neuropathy\X-linked distal hereditary motor neuropathy\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\X-linked distal hereditary motor neuropathy\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease (disorder)\atrophie musculaire spinale (trouble)\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\Peripheral motor neuropathy\X-linked distal hereditary motor neuropathy\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\maladie du motoneurone (trouble)\Lower motor neuron disease\atrophie musculaire spinale (trouble)\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\maladie du motoneurone (trouble)\Hereditary motor neuron disease (disorder)\atrophie musculaire spinale (trouble)\X-linked distal arthrogryposis multiplex congenita (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\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Amyoplasia congenita disruptive sequence\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Inherited arthrogryposis\X-linked distal arthrogryposis multiplex congenita (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\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Amyoplasia congenita disruptive sequence\X-linked distal arthrogryposis multiplex congenita (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\X-linked distal arthrogryposis multiplex congenita (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3318104013	X-linked distal arthrogryposis multiplex congenita (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318105014	X-linked distal arthrogryposis multiplex congenita	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318106010	Spinal muscular atrophy with arthrogryposis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318107018	X-linked spinal muscular atrophy type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4578747016	Infantile-onset X-linked spinal muscular atrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3318108011	A rare form of spinal muscular atrophy with characteristics of the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Patients have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.	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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