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 (disorder)
\Deformity (finding)\Deformation of bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Deformity (finding)\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Deformity (finding)\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)

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

\Musculoskeletal finding\Bone finding\Deformation of bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachydactyly type A4 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly type A4 (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachydactyly type A4 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Brachydactyly type A4 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly type A4 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachydactyly type A4 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Brachydactyly type A4 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A4 (disorder)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactyly type A4 (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Brachydactyly type A4 (disorder)	Is a	Brachymesophalangia	true	Inferred relationship	Some
Brachydactyly type A4 (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Brachydactyly type A4 (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Brachydactyly type A4 (disorder)	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Brachydactyly type A4 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Brachydactyly type A4 (disorder)	Finding site	Entire phalanx	false	Inferred relationship	Some	1
Brachydactyly type A4 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Brachydactyly type A4 (disorder)	Finding site	Entire middle phalanx	true	Inferred relationship	Some	1
Brachydactyly type A4 (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

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