715720006: Brachydactyly type A1 (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachydactyly type A1
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachydactyly type A1
\Deformity\Deformity of bone\Brachyphalangia\Brachydactyly type A1

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachydactyly type A1
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachydactyly type A1
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachydactyly type A1
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachydactyly type A1

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachydactyly type A1
\Musculoskeletal finding\Bone finding\Disorder of bone\Deformity of bone\Brachyphalangia\Brachydactyly type A1
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachydactyly type A1
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachydactyly type A1
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Brachyphalangia\Brachydactyly type A1
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachydactyly type A1

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly type A1
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachydactyly type A1
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Brachydactyly type A1
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly type A1
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachydactyly type A1
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachydactyly type A1
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Brachyphalangia\Brachydactyly type A1
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachydactyly type A1
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachydactyly type A1
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachydactyly type A1
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachydactyly type A1
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachydactyly type A1
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachydactyly type A1
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachydactyly type A1
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachydactyly type A1
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Brachyphalangia\Brachydactyly type A1
\Disease\Developmental disorder\Developmental hereditary disorder\Brachydactyly type A1
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachydactyly type A1
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Brachyphalangia\Brachydactyly type A1
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachyphalangia\Brachydactyly type A1
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachyphalangia\Brachydactyly type A1

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

Descriptions:

Id Description Lang Type Status Case? Module

3303507017 Brachydactyly type A1 (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3303508010 Brachydactyly type A1 en Synonym Active Initial character case insensitive SNOMED CT core

3303509019 Brachydactyly Farabee type en Synonym Active Initial character case insensitive SNOMED CT core

3303510012 A congenital malformation with apparent shortness (or absence) of the middle phalanges of all digits and occasional fusion with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Tendency to be of short stature in adulthood. Inherited as an autosomal dominant trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactyly type A1	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Brachydactyly type A1	Finding site	Entire phalanx	true	Inferred relationship	Some	1
Brachydactyly type A1	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Brachydactyly type A1	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Brachydactyly type A1	Is a	Brachyphalangia	true	Inferred relationship	Some
Brachydactyly type A1	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Brachydactyly type A1	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Brachydactyly type A1	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Brachydactyly type A1	Occurrence	Congenital	true	Inferred relationship	Some	1
Brachydactyly type A1	Finding site	Phalanx structure	false	Inferred relationship	Some	1
Brachydactyly type A1	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Brachydactyly type A1	Is a	Deformity of bone	false	Inferred relationship	Some
Brachydactyly type A1	Is a	Congenital anomaly of digit	false	Inferred relationship	Some
Brachydactyly type A1	Is a	Longitudinal deficiency of part of limb	false	Inferred relationship	Some
Brachydactyly type A1	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	2
Brachydactyly type A1	Occurrence	Congenital	false	Inferred relationship	Some	2
Brachydactyly type A1	Finding site	Entire phalanx	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

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3303507017	Brachydactyly type A1 (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3303508010	Brachydactyly type A1	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3303509019	Brachydactyly Farabee type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3303510012	A congenital malformation with apparent shortness (or absence) of the middle phalanges of all digits and occasional fusion with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Tendency to be of short stature in adulthood. Inherited as an autosomal dominant trait.	en	Definition	Active	Case sensitive	SNOMED CT core