715721005: Brachydactyly type A4 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Deformity (finding)\Deformation of bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Deformity (finding)\Congenital deformity (disorder)\Congenital deformity of musculoskeletal system (disorder)\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Deformity (finding)\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Finding of limb structure (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Musculoskeletal finding (finding)\Bone finding\Deformation of bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Brachydactyly type A4
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Brachydactyly type A4
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachydactyly type A4
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Brachydactyly type A4
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Congenital deformity of musculoskeletal system (disorder)\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Brachydactyly type A4
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Brachydactyly type A4
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Disease\Disorder of limb\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Brachydactyly type A4
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Congenital deformity of musculoskeletal system (disorder)\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4

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
3303511011	Brachydactyly type A4 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303512016	Brachydactyly type A4	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303513014	Brachydactyly Temtamy type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5401047012	A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401048019	A rare congenital limb malformation characterised by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303511011	Brachydactyly type A4 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303512016	Brachydactyly type A4	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303513014	Brachydactyly Temtamy type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303514015	A very rare congenital malformation with brachymesophalangy affecting mainly the second and the fifth digit. When the fourth digit is affected, it results in an abnormally shaped middle phalanx, leading to radial deviation of the distal phalanx. Absence of the middle phalanges of the lateral four toes has been reported. Autosomal dominant inheritance is suggested.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401047012	A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401048019	A rare congenital limb malformation characterised by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3388241001000113	Brachydaktylie Typ A4	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
934531000172116	brachydactylie type Temtamy	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
951451000172113	brachydactylie type A4	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
934531000172116	brachydactylie type Temtamy	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
951451000172113	brachydactylie type A4	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3388241001000113	Brachydaktylie Typ A4	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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