764437006: Brachydactyly elbow wrist dysplasia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly elbow wrist dysplasia (disorder)
• \Deformity (finding)\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly elbow wrist dysplasia (disorder)
• \Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly elbow wrist dysplasia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly elbow wrist dysplasia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of elbow (disorder)\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of wrist region (disorder)\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly elbow wrist dysplasia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly elbow wrist dysplasia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of elbow (disorder)\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of wrist region (disorder)\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of wrist region\Finding of wrist joint\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of wrist region\Disorder of wrist region (disorder)\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of elbow region\Finding of elbow joint\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of elbow region\Disorder of elbow (disorder)\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Joint finding\Finding of wrist joint\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Joint finding\Finding of elbow joint\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of joint region\Disorder of elbow (disorder)\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of joint region\Disorder of wrist region (disorder)\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of elbow (disorder)\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of wrist region (disorder)\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3649833017	Brachydactyly elbow wrist dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649834011	Brachydactyly elbow wrist dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649835012	Liebenberg syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3649836013	Brachydactyly with joint dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649600012	Syndrome with abnormal development of the arms resulting in characteristic arm malformations that can vary in severity. Bones in the elbows are abnormally shaped which affects mobility of the joints. Wrist bones are fused forming structures that resemble those in the ankles and heels and causing permanent radial deviation. The metacarpals are longer than normal along with brachydactyly. Life expectancy is normal. The syndrome is caused by genetic changes near the PITX1 gene. Inherited in an autosomal dominant pattern.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5561271000172115	syndrome de brachydactylie et dysplasie des coudes et des poignets	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5561321000172113	syndrome de Liebenberg	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5561331000172111	syndrome de brachydactylie et dysplasie articulaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5561281000172117	syndroom van Liebenberg	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5561291000172119	Liebenberg-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5561301000172118	syndroom van brachydactylie, elleboogdysplasie en polsdysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5561311000172115	syndroom van brachydactylie en gewrichtsdysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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