732956000: Brachydactyly and distal symphalangism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Deformity\Deformity of bone\Brachyphalangia\Brachymesophalangia\Sillence syndrome

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Symphalangism\Distal interphalangeal joint symphalangism\Sillence syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Symphalangism\Distal interphalangeal joint symphalangism\Sillence syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Sillence syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Sillence syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Deformity of bone\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Ankylosis of joint\Symphalangism\Distal interphalangeal joint symphalangism\Sillence syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Symphalangism\Distal interphalangeal joint symphalangism\Sillence syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Sillence syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Sillence syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Ankylosis of joint\Symphalangism\Distal interphalangeal joint symphalangism\Sillence syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Symphalangism\Distal interphalangeal joint symphalangism\Sillence syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Sillence syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Sillence syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Symphalangism\Distal interphalangeal joint symphalangism\Sillence syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Sillence syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Sillence syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Sillence syndrome

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Ankylosis of joint\Symphalangism\Distal interphalangeal joint symphalangism\Sillence syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Symphalangism\Distal interphalangeal joint symphalangism\Sillence syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Sillence syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Sillence syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Sillence syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Sillence syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Sillence syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Sillence syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Ankylosis of joint\Symphalangism\Distal interphalangeal joint symphalangism\Sillence syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Symphalangism\Distal interphalangeal joint symphalangism\Sillence syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Sillence syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Sillence syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Symphalangism\Distal interphalangeal joint symphalangism\Sillence syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Sillence syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Sillence syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Symphalangism\Distal interphalangeal joint symphalangism\Sillence syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Symphalangism\Distal interphalangeal joint symphalangism\Sillence syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Sillence syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Symphalangism\Distal interphalangeal joint symphalangism\Sillence syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Sillence syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Sillence syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Symphalangism\Distal interphalangeal joint symphalangism\Sillence syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Sillence syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Sillence syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Sillence syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Symphalangism\Distal interphalangeal joint symphalangism\Sillence syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Sillence syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Sillence syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Sillence syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Symphalangism\Distal interphalangeal joint symphalangism\Sillence syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Sillence syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498441013 Sillence syndrome en Synonym Active Case sensitive SNOMED CT core

3498442018 Brachydactyly and distal symphalangism syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3498443011 Brachydactyly and distal symphalangism syndrome en Synonym Active Case insensitive SNOMED CT core

3499924013 Syndrome that resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. The syndrome has been described in one family with five affected individuals from three successive generations. Transmission appears to be autosomal dominant. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sillence syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Sillence syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Sillence syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Sillence syndrome	Is a	Distal interphalangeal joint symphalangism	true	Inferred relationship	Some
Sillence syndrome	Finding site	Structure of distal interphalangeal joint	true	Inferred relationship	Some	1
Sillence syndrome	Associated morphology	Ankylosis	true	Inferred relationship	Some	1
Sillence syndrome	Is a	Brachymesophalangia	true	Inferred relationship	Some
Sillence syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Sillence syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Sillence syndrome	Is a	Brachyphalangia	false	Inferred relationship	Some
Sillence syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Sillence syndrome	Is a	Congenital anomaly of bone and joint	true	Inferred relationship	Some
Sillence syndrome	Is a	Symphalangism	false	Inferred relationship	Some
Sillence syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Sillence syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Sillence syndrome	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	2
Sillence syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Sillence syndrome	Finding site	Entire middle phalanx	true	Inferred relationship	Some	2
Sillence syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Sillence syndrome	Associated morphology	Congenital ankylosis	false	Inferred relationship	Some	2
Sillence syndrome	Finding site	Interphalangeal joint structure	false	Inferred relationship	Some	2
Sillence syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	3
Sillence syndrome	Finding site	Entire middle phalanx	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498441013	Sillence syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3498442018	Brachydactyly and distal symphalangism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3498443011	Brachydactyly and distal symphalangism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3499924013	Syndrome that resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. The syndrome has been described in one family with five affected individuals from three successive generations. Transmission appears to be autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core