715721005: Brachydactyly type A4 (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Deformity\Deformity of bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\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 A4

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Musculoskeletal finding\Bone finding\Disorder of bone\Deformity of bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachydactyly type A4
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Musculoskeletal finding\Musculoskeletal 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\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 body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly type A4
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachydactyly type A4
\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 A4
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Disease\Developmental disorder\Developmental hereditary disorder\Brachydactyly type A4
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4

Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core

3303512016 Brachydactyly type A4 en Synonym Active Initial character case insensitive SNOMED CT core

3303513014 Brachydactyly Temtamy type en Synonym Active Initial character case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactyly type A4	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Brachydactyly type A4	Finding site	Entire middle phalanx	true	Inferred relationship	Some	1
Brachydactyly type A4	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Brachydactyly type A4	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Brachydactyly type A4	Is a	Brachymesophalangia	true	Inferred relationship	Some
Brachydactyly type A4	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Brachydactyly type A4	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Brachydactyly type A4	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Brachydactyly type A4	Occurrence	Congenital	true	Inferred relationship	Some	1
Brachydactyly type A4	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
3303511011	Brachydactyly type A4 (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3303512016	Brachydactyly type A4	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3303513014	Brachydactyly Temtamy type	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core