715722003: Brachydactyly type A6 (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Deformity\Deformity of bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Musculoskeletal finding\Bone finding\Disorder of bone\Deformity of bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachydactyly type A6
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly type A6
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachydactyly type A6
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Brachydactyly type A6
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly type A6
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachydactyly type A6
\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\Brachydactyly type A6
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Disease\Developmental disorder\Developmental hereditary disorder\Brachydactyly type A6
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3303515019 Brachydactyly type A6 (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3303516018 Brachydactyly type A6 en Synonym Active Initial character case insensitive SNOMED CT core

3303517010 Osebold Remondini syndrome en Synonym Active Case sensitive SNOMED CT core

3303518017 Manifestations of brachymesophalangy with mesomelic short limbs and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. 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
Brachydactyly type A6	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Brachydactyly type A6	Finding site	Entire middle phalanx	true	Inferred relationship	Some	1
Brachydactyly type A6	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Brachydactyly type A6	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Brachydactyly type A6	Is a	Brachymesophalangia	true	Inferred relationship	Some
Brachydactyly type A6	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Brachydactyly type A6	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Brachydactyly type A6	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Brachydactyly type A6	Occurrence	Congenital	true	Inferred relationship	Some	1
Brachydactyly type A6	Finding site	Entire phalanx	false	Inferred relationship	Some	1

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
3303515019	Brachydactyly type A6 (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3303516018	Brachydactyly type A6	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3303517010	Osebold Remondini syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3303518017	Manifestations of brachymesophalangy with mesomelic short limbs and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. Transmission appears to be autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core