715217004: Distal arthrogryposis type 5 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Arthrogryposis with oculomotor limitation and electroretinal anomaly
• \Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Arthrogryposis with oculomotor limitation and electroretinal anomaly
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Arthrogryposis with oculomotor limitation and electroretinal anomaly
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Arthrogryposis with oculomotor limitation and electroretinal anomaly
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Arthrogryposis with oculomotor limitation and electroretinal anomaly
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\Arthrogryposis with oculomotor limitation and electroretinal anomaly
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Distal arthrogryposis syndrome\Arthrogryposis with oculomotor limitation and electroretinal anomaly
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Arthrogryposis with oculomotor limitation and electroretinal anomaly
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Arthrogryposis with oculomotor limitation and electroretinal anomaly
• \Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\Arthrogryposis with oculomotor limitation and electroretinal anomaly
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Arthrogryposis with oculomotor limitation and electroretinal anomaly

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3301898016	Distal arthrogryposis type 5 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3301899012	Distal arthrogryposis type 5	en	Synonym	Active	Case insensitive	SNOMED CT core
3301900019	Arthrogryposis with oculomotor limitation and electroretinal anomaly	en	Synonym	Active	Case insensitive	SNOMED CT core
3301901015	Distal arthrogryposis with ophthalmoplegia	en	Synonym	Active	Case insensitive	SNOMED CT core
3301902010	Oculomelic amyoplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3313038016	An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal.	en	Definition	Active	Case sensitive	SNOMED CT core
3313039012	An inherited developmental defect syndrome characterised by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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