715420005: Lethal congenital contracture syndrome type 3 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \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\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Musculoskeletal finding\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3302555013	Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302553018	Lethal congenital contracture syndrome type 3 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302554012	Lethal congenital contracture syndrome type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
971511000172111	syndrome des contractures congénitales létales type 3	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
981251000172116	LCCS3 - lethal congenital contracture syndrome type 3	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3419861001000110	Syndrom der kongenitalen letalen Kontrakturen Typ 3	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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