720457000: Acropectorovertebral dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of back\Finding of spinal region\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Acropectorovertebral dysplasia
\Finding of back\Finding of spinal region\Disorder of spinal region\Disorder of vertebral column\Acropectorovertebral dysplasia
\Finding of back\Finding of spinal region\Vertebral column finding\Disorder of vertebral column\Acropectorovertebral dysplasia
\Finding of back\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Acropectorovertebral dysplasia
\Finding of back\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Acropectorovertebral dysplasia
\Finding of back\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Acropectorovertebral dysplasia

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\Acropectorovertebral dysplasia

\Congenital anomaly of limb\Congenital anomaly of digit\Acropectorovertebral dysplasia

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia

\Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column\Acropectorovertebral dysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Acropectorovertebral dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Acropectorovertebral dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Acropectorovertebral dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Acropectorovertebral dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Acropectorovertebral dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Acropectorovertebral dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acropectorovertebral dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acropectorovertebral dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Acropectorovertebral dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Acropectorovertebral dysplasia
\Disease\Disorder of body wall\Congenital anomaly of body wall\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acropectorovertebral dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Acropectorovertebral dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Acropectorovertebral dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Acropectorovertebral dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Acropectorovertebral dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Acropectorovertebral dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acropectorovertebral dysplasia
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Acropectorovertebral dysplasia
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Acropectorovertebral dysplasia
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acropectorovertebral dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of body wall\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Acropectorovertebral dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Acropectorovertebral dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acropectorovertebral dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Acropectorovertebral dysplasia
\Disease\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Acropectorovertebral dysplasia
\Disease\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Acropectorovertebral dysplasia
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Acropectorovertebral dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Acropectorovertebral dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Acropectorovertebral dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acropectorovertebral dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of body wall\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Acropectorovertebral dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Acropectorovertebral dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital malformation of sternum\Acropectorovertebral dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acropectorovertebral dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Acropectorovertebral dysplasia

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3320825011 Acropectorovertebral dysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3320826012 Acropectorovertebral dysplasia en Synonym Active Case insensitive SNOMED CT core

3320827015 F syndrome en Synonym Active Case sensitive SNOMED CT core

3320828013 A skeletal dysplasia with characteristics of fusion of the carpal and tarsal bones and complex anomalies of the fingers and toes. It has been described in less than 30 patients from three unrelated families. Other manifestations include prominence of the sternum with variable pectus excavatum, lumbosacral spina bifida occulta, minor craniofacial anomalies and mild intellectual deficit. This syndrome is transmitted as an autosomal dominant trait with full penetrance. The causative gene has been mapped to chromosome region 2q36. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acropectorovertebral dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Acropectorovertebral dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Acropectorovertebral dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Acropectorovertebral dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	3
Acropectorovertebral dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Acropectorovertebral dysplasia	Finding site	Bone structure of spine	true	Inferred relationship	Some	2
Acropectorovertebral dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Acropectorovertebral dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
Acropectorovertebral dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	2
Acropectorovertebral dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Acropectorovertebral dysplasia	Finding site	Bone structure of sternum	true	Inferred relationship	Some	3
Acropectorovertebral dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Acropectorovertebral dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Acropectorovertebral dysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Acropectorovertebral dysplasia	Is a	Disorder of vertebral column	true	Inferred relationship	Some
Acropectorovertebral dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Acropectorovertebral dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Acropectorovertebral dysplasia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Acropectorovertebral dysplasia	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Acropectorovertebral dysplasia	Is a	Congenital anomaly of spine	true	Inferred relationship	Some
Acropectorovertebral dysplasia	Is a	Dysostosis	true	Inferred relationship	Some
Acropectorovertebral dysplasia	Is a	Congenital malformation of sternum	true	Inferred relationship	Some
Acropectorovertebral dysplasia	Is a	Finding of vertebra	false	Inferred relationship	Some
Acropectorovertebral dysplasia	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Acropectorovertebral dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Acropectorovertebral dysplasia	Is a	Congenital anomaly of digit	true	Inferred relationship	Some
Acropectorovertebral dysplasia	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Acropectorovertebral dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	4
Acropectorovertebral dysplasia	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Acropectorovertebral dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	5
Acropectorovertebral dysplasia	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Acropectorovertebral dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	6
Acropectorovertebral dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	7
Acropectorovertebral dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	7
Acropectorovertebral dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	7
Acropectorovertebral dysplasia	Finding site	Bone structure of sternum	false	Inferred relationship	Some	6
Acropectorovertebral dysplasia	Finding site	Bone structure of spine	false	Inferred relationship	Some	5
Acropectorovertebral dysplasia	Finding site	Digit structure	true	Inferred relationship	Some	4

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
3320825011	Acropectorovertebral dysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3320826012	Acropectorovertebral dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3320827015	F syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3320828013	A skeletal dysplasia with characteristics of fusion of the carpal and tarsal bones and complex anomalies of the fingers and toes. It has been described in less than 30 patients from three unrelated families. Other manifestations include prominence of the sternum with variable pectus excavatum, lumbosacral spina bifida occulta, minor craniofacial anomalies and mild intellectual deficit. This syndrome is transmitted as an autosomal dominant trait with full penetrance. The causative gene has been mapped to chromosome region 2q36.	en	Definition	Active	Case sensitive	SNOMED CT core