715722003: Brachydactyly type A6 (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 A6 (disorder)
\Deformity (finding)\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Deformity (finding)\Deformity of bone\Brachyphalangia\Brachymesophalangia\Brachydactyly type A6 (disorder)

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

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

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

3303515019 Brachydactyly type A6 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3303516018 Brachydactyly type A6 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3303517010 Osebold Remondini syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

3869551000052112 brakydaktyli, typ A6 sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactyly type A6 (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Brachydactyly type A6 (disorder)	Is a	Brachymesophalangia	true	Inferred relationship	Some
Brachydactyly type A6 (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Brachydactyly type A6 (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Brachydactyly type A6 (disorder)	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Brachydactyly type A6 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Brachydactyly type A6 (disorder)	Finding site	Entire phalanx	false	Inferred relationship	Some	1
Brachydactyly type A6 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Brachydactyly type A6 (disorder)	Finding site	Entire middle phalanx	true	Inferred relationship	Some	1
Brachydactyly type A6 (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3303515019	Brachydactyly type A6 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303516018	Brachydactyly type A6	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303517010	Osebold Remondini syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3869551000052112	brakydaktyli, typ A6	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)