764437006: Brachydactyly elbow wrist dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly elbow wrist dysplasia
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly elbow wrist dysplasia

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly elbow wrist dysplasia
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly elbow wrist dysplasia
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of elbow\Arthropathy of elbow\Brachydactyly elbow wrist dysplasia
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of wrist\Disorder of wrist joint\Brachydactyly elbow wrist dysplasia
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly elbow wrist dysplasia
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly elbow wrist dysplasia
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of elbow\Arthropathy of elbow\Brachydactyly elbow wrist dysplasia
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of wrist\Disorder of wrist joint\Brachydactyly elbow wrist dysplasia
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia
\Finding of limb structure\Finding of upper limb\Finding of wrist region\Finding of wrist joint\Disorder of wrist joint\Brachydactyly elbow wrist dysplasia
\Finding of limb structure\Finding of upper limb\Finding of wrist region\Disorder of wrist\Disorder of wrist joint\Brachydactyly elbow wrist dysplasia
\Finding of limb structure\Finding of upper limb\Finding of elbow region\Finding of elbow joint\Arthropathy of elbow\Brachydactyly elbow wrist dysplasia
\Finding of limb structure\Finding of upper limb\Finding of elbow region\Disorder of elbow\Arthropathy of elbow\Brachydactyly elbow wrist dysplasia

\Musculoskeletal finding\Joint finding\Arthropathy\Arthropathy of elbow\Brachydactyly elbow wrist dysplasia
\Musculoskeletal finding\Joint finding\Arthropathy\Disorder of wrist joint\Brachydactyly elbow wrist dysplasia
\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Brachydactyly elbow wrist dysplasia
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia
\Musculoskeletal finding\Joint finding\Finding of wrist joint\Disorder of wrist joint\Brachydactyly elbow wrist dysplasia
\Musculoskeletal finding\Joint finding\Finding of elbow joint\Arthropathy of elbow\Brachydactyly elbow wrist dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachydactyly elbow wrist dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Arthropathy of elbow\Brachydactyly elbow wrist dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Disorder of wrist joint\Brachydactyly elbow wrist dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Brachydactyly elbow wrist dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Brachydactyly elbow wrist dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Brachydactyly elbow wrist dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia

\Disease\Disorder of joint region\Arthropathy\Arthropathy of elbow\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of joint region\Arthropathy\Disorder of wrist joint\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of joint region\Disorder of elbow\Arthropathy of elbow\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of joint region\Disorder of wrist\Disorder of wrist joint\Brachydactyly elbow wrist dysplasia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly elbow wrist dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachydactyly elbow wrist dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Arthropathy of elbow\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Disorder of wrist joint\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of elbow\Arthropathy of elbow\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of wrist\Disorder of wrist joint\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly elbow wrist dysplasia
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly elbow wrist dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Brachydactyly elbow wrist dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly elbow wrist dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly elbow wrist dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Brachydactyly elbow wrist dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly elbow wrist dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Brachydactyly elbow wrist dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly elbow wrist dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly elbow wrist dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3649834011 Brachydactyly elbow wrist dysplasia en Synonym Active Case insensitive SNOMED CT core

3649835012 Liebenberg syndrome en Synonym Active Case sensitive SNOMED CT core

3649836013 Brachydactyly with joint dysplasia en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactyly elbow wrist dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Brachydactyly elbow wrist dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Brachydactyly elbow wrist dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Brachydactyly elbow wrist dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Brachydactyly elbow wrist dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Brachydactyly elbow wrist dysplasia	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Brachydactyly elbow wrist dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Brachydactyly elbow wrist dysplasia	Finding site	Joint structure of wrist region	true	Inferred relationship	Some	1
Brachydactyly elbow wrist dysplasia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Brachydactyly elbow wrist dysplasia	Is a	Brachydactyly	true	Inferred relationship	Some
Brachydactyly elbow wrist dysplasia	Is a	Congenital anomaly of upper limb	true	Inferred relationship	Some
Brachydactyly elbow wrist dysplasia	Is a	Congenital anomaly of joint	true	Inferred relationship	Some
Brachydactyly elbow wrist dysplasia	Is a	Lesion of joint	true	Inferred relationship	Some
Brachydactyly elbow wrist dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Brachydactyly elbow wrist dysplasia	Is a	Disorder of wrist joint	true	Inferred relationship	Some
Brachydactyly elbow wrist dysplasia	Is a	Arthropathy of elbow	true	Inferred relationship	Some
Brachydactyly elbow wrist dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Brachydactyly elbow wrist dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	3
Brachydactyly elbow wrist dysplasia	Finding site	Elbow joint structure	false	Inferred relationship	Some	3
Brachydactyly elbow wrist dysplasia	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	3
Brachydactyly elbow wrist dysplasia	Finding site	Digit structure	true	Inferred relationship	Some	3
Brachydactyly elbow wrist dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	2
Brachydactyly elbow wrist dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Brachydactyly elbow wrist dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Brachydactyly elbow wrist dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Brachydactyly elbow wrist dysplasia	Finding site	Elbow joint structure	true	Inferred relationship	Some	2
Brachydactyly elbow wrist dysplasia	Finding site	Structure of radiocarpal joint	false	Inferred relationship	Some	1
Brachydactyly elbow wrist dysplasia	Finding site	Digit structure	false	Inferred relationship	Some	2
Brachydactyly elbow wrist dysplasia	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3649833017	Brachydactyly elbow wrist dysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3649834011	Brachydactyly elbow wrist dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3649835012	Liebenberg syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3649836013	Brachydactyly with joint dysplasia	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core