715419004: Lethal congenital contracture syndrome type 2 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \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\Lethal congenital contracture syndrome type 2
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Finding of movement\Motor dysfunction\Akinesia\Lethal congenital contracture syndrome type 2
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\...
• \Congenital anomaly of skeletal muscle (disorder)\Lethal congenital contracture syndrome type 2
• \Muscle atrophy\Lethal congenital contracture syndrome type 2
• \Muscle finding (finding)\Disorder of muscle\...
• \Degenerative disorder of muscle (disorder)\Muscle atrophy\Lethal congenital contracture syndrome type 2
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Lethal congenital contracture syndrome type 2
• \Disorder of skeletal muscle\Muscle atrophy\Lethal congenital contracture syndrome type 2
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Musculoskeletal finding (finding)\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Degenerative disorder of musculoskeletal system (disorder)\Muscle atrophy\Lethal congenital contracture syndrome type 2
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Lethal congenital contracture syndrome type 2
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Muscle atrophy\Lethal congenital contracture syndrome type 2
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Lethal congenital contracture syndrome type 2
• \Neurological finding\Motor nervous system finding (finding)\Motor dysfunction\Akinesia\Lethal congenital contracture syndrome type 2
• \Disease\Disorder of joint region\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal congenital contracture syndrome type 2
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Lethal congenital contracture syndrome type 2
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system (disorder)\Muscle atrophy\Lethal congenital contracture syndrome type 2
• \Disease\Degenerative disorder\Degenerative disorder of muscle (disorder)\Muscle atrophy\Lethal congenital contracture syndrome type 2
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Degenerative disorder of musculoskeletal system (disorder)\Muscle atrophy\Lethal congenital contracture syndrome type 2
• \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\Lethal congenital contracture syndrome type 2
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Lethal congenital contracture syndrome type 2
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Muscle atrophy\Lethal congenital contracture syndrome type 2
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Lethal congenital contracture syndrome type 2
• \Disease\Disorder of muscle\Degenerative disorder of muscle (disorder)\Muscle atrophy\Lethal congenital contracture syndrome type 2
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Lethal congenital contracture syndrome type 2
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscle atrophy\Lethal congenital contracture syndrome type 2
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Lethal congenital contracture syndrome type 2
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscle atrophy\Lethal congenital contracture syndrome type 2
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Lethal congenital contracture syndrome type 2

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
3302543019	Lethal congenital contracture syndrome type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302544013	Lethal congenital contracture syndrome type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302545014	Multiple contracture syndrome Israeli-Bedouin type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5400868016	Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400869012	Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterised by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302543019	Lethal congenital contracture syndrome type 2 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302543019	Lethal congenital contracture syndrome type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302544013	Lethal congenital contracture syndrome type 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302544013	Lethal congenital contracture syndrome type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302545014	Multiple contracture syndrome Israeli-Bedouin type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302546010	Autosomal recessive disorder originally described in Finnish families. Diagnostic criteria are early fetal hydrops and akinesia, specific neuropathology with degeneration of anterior horn neurons, and extreme skeletal muscle atrophy. The Israeli-Bedouin pedigree is characterized by congenital contractures and additional unique phenotypic abnormalities, suggesting it represents a novel variant of autosomal recessive LCCS. Features distinguishing the novel disorder, LCCS2, from the Finnish type of LCCS included additional craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy. The major unique and previously undescribed clinical feature in the Israeli Bedouin disorder is markedly distended urinary bladder.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302547018	Autosomal recessive disorder originally described in Finnish families. Diagnostic criteria are early foetal hydrops and akinesia, specific neuropathology with degeneration of anterior horn neurons, and extreme skeletal muscle atrophy. The Israeli-Bedouin pedigree is characterised by congenital contractures and additional unique phenotypic abnormalities, suggesting it represents a novel variant of autosomal recessive LCCS. Features distinguishing the novel disorder, LCCS2, from the Finnish type of LCCS included additional craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy. The major unique and previously undescribed clinical feature in the Israeli Bedouin disorder is markedly distended urinary bladder.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400868016	Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400869012	Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterised by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3419681001000119	Syndrom der kongenitalen letalen Kontrakturen Typ 2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
891611000172114	LCCS2 - lethal congenital contracture syndrome type 2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
919011000172112	syndrome des contractures congénitales létales type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
891611000172114	LCCS2 - lethal congenital contracture syndrome type 2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
919011000172112	syndrome des contractures congénitales létales type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3419681001000119	Syndrom der kongenitalen letalen Kontrakturen Typ 2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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