773396009: Distal arthrogryposis type 5D (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 5D
• \Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 5D
• \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\Distal arthrogryposis type 5D
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 5D
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 5D
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 5D
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Distal arthrogryposis type 5D
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Distal arthrogryposis syndrome\Distal arthrogryposis type 5D
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 5D
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 5D
• \Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 5D
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 5D

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723375011	Distal arthrogryposis type 5D (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3723376012	Distal arthrogryposis type 5D	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3723377015	Distal arthrogryposis type 5 without ophthalmoparesis	en	Synonym	Active	Case insensitive	SNOMED CT core
3723378013	Distal arthrogryposis type 5 without ophthalmoplegia	en	Synonym	Active	Case insensitive	SNOMED CT core
3723379017	DA5D - distal arthrogryposis type 5D	en	Synonym	Active	Case sensitive	SNOMED CT core
3723380019	A rare subtype of distal arthrogryposis syndrome with characteristics of arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (for example ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, clubfeet, scoliosis and short stature. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q36.	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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