773396009: Distal arthrogryposis type 5D (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Congenital deformity (disorder)\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Distal arthrogryposis type 5D (disorder)
• \Deformity (finding)\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Deformity (finding)\Congenital deformity (disorder)\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Distal arthrogryposis type 5D (disorder)
• \Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Distal arthrogryposis type 5D (disorder)
• \Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Distal arthrogryposis type 5D (disorder)
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Distal arthrogryposis type 5D (disorder)
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Distal arthrogryposis type 5D (disorder)
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Distal arthrogryposis type 5D (disorder)
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Distal arthrogryposis type 5D (disorder)
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Distal arthrogryposis type 5D (disorder)
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Distal arthrogryposis type 5D (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Distal arthrogryposis type 5D (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Distal arthrogryposis type 5D (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Distal arthrogryposis type 5D (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Distal arthrogryposis type 5D (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Distal arthrogryposis type 5D (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Distal arthrogryposis type 5D (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Distal arthrogryposis type 5D (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Distal arthrogryposis type 5D (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Distal arthrogryposis type 5D (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of joint region\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of joint region\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of joint region\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Distal arthrogryposis type 5D (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Distal arthrogryposis type 5D (disorder)
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Distal arthrogryposis type 5D (disorder)
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Distal arthrogryposis type 5D (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Distal arthrogryposis type 5D (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 5D (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Distal arthrogryposis type 5D (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723376012	Distal arthrogryposis type 5D	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723377015	Distal arthrogryposis type 5 without ophthalmoparesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723378013	Distal arthrogryposis type 5 without ophthalmoplegia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723379017	DA5D - distal arthrogryposis type 5D	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723375011	Distal arthrogryposis type 5D (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723376012	Distal arthrogryposis type 5D	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723377015	Distal arthrogryposis type 5 without ophthalmoparesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723378013	Distal arthrogryposis type 5 without ophthalmoplegia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723379017	DA5D - distal arthrogryposis type 5D	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3428481001000115	Arthrogrypose, distale, Typ 5D	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
940971000172116	arthrogrypose distale type 5 sans ophtalmoparésie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
960011000172119	arthrogrypose distale type 5D	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
940971000172116	arthrogrypose distale type 5 sans ophtalmoparésie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
960011000172119	arthrogrypose distale type 5D	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3428481001000115	Arthrogrypose, distale, Typ 5D	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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