773773006: Acrodysplasia scoliosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Acrodysplasia scoliosis
\Deformity\Deformity of spine\Curvature of spine\Scoliosis deformity of spine\Acrodysplasia scoliosis
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Acrodysplasia scoliosis

\Finding of back\Finding of spinal region\Disorder of spinal region\Congenital anomaly of vertebral region of back\Acrodysplasia scoliosis
\Finding of back\Finding of spinal region\Disorder of spinal region\Curvature of spine\Scoliosis deformity of spine\Acrodysplasia scoliosis
\Finding of back\Finding of spinal region\Deformity of spine\Curvature of spine\Scoliosis deformity of spine\Acrodysplasia scoliosis
\Finding of back\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Acrodysplasia scoliosis
\Finding of back\Disorder of back\Disorder of spinal region\Curvature of spine\Scoliosis deformity of spine\Acrodysplasia scoliosis
\Finding of back\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Acrodysplasia scoliosis

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Acrodysplasia scoliosis
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Acrodysplasia scoliosis
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Acrodysplasia scoliosis
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Acrodysplasia scoliosis

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Acrodysplasia scoliosis
\Musculoskeletal finding\Musculoskeletal disorder\Scoliosis deformity of spine\Acrodysplasia scoliosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Acrodysplasia scoliosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Acrodysplasia scoliosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Acrodysplasia scoliosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrodysplasia scoliosis

\Disease\Disorder of body system\Musculoskeletal disorder\Scoliosis deformity of spine\Acrodysplasia scoliosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Acrodysplasia scoliosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Acrodysplasia scoliosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Acrodysplasia scoliosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrodysplasia scoliosis
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Acrodysplasia scoliosis
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Acrodysplasia scoliosis
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Acrodysplasia scoliosis
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Acrodysplasia scoliosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Acrodysplasia scoliosis
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Acrodysplasia scoliosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Acrodysplasia scoliosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrodysplasia scoliosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Acrodysplasia scoliosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Acrodysplasia scoliosis
\Disease\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Acrodysplasia scoliosis
\Disease\Disorder of back\Disorder of spinal region\Curvature of spine\Scoliosis deformity of spine\Acrodysplasia scoliosis
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Acrodysplasia scoliosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Acrodysplasia scoliosis
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Acrodysplasia scoliosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Acrodysplasia scoliosis
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Acrodysplasia scoliosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Acrodysplasia scoliosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrodysplasia scoliosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Acrodysplasia scoliosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Acrodysplasia scoliosis

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3726306017 Acrodysplasia scoliosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3726307014 Acrodysplasia scoliosis en Synonym Active Case insensitive SNOMED CT core

3726308016 Brachydactyly, scoliosis, carpal fusion syndrome en Synonym Active Case insensitive SNOMED CT core

3726309012 Prata Liberal Goncalves syndrome en Synonym Active Case sensitive SNOMED CT core

3726310019 A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrodysplasia scoliosis	Occurrence	Congenital	true	Inferred relationship	Some	2
Acrodysplasia scoliosis	Finding site	Musculoskeletal structure of spine	true	Inferred relationship	Some	3
Acrodysplasia scoliosis	Is a	Scoliosis deformity of spine	true	Inferred relationship	Some
Acrodysplasia scoliosis	Finding site	Bone structure	true	Inferred relationship	Some	2
Acrodysplasia scoliosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Acrodysplasia scoliosis	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Acrodysplasia scoliosis	Finding site	Digit structure	true	Inferred relationship	Some	1
Acrodysplasia scoliosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Acrodysplasia scoliosis	Is a	Brachydactyly	true	Inferred relationship	Some
Acrodysplasia scoliosis	Is a	Congenital anomaly of vertebral region of back	true	Inferred relationship	Some
Acrodysplasia scoliosis	Is a	Dysostosis	true	Inferred relationship	Some
Acrodysplasia scoliosis	Occurrence	Congenital	true	Inferred relationship	Some	3
Acrodysplasia scoliosis	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Acrodysplasia scoliosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Acrodysplasia scoliosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Acrodysplasia scoliosis	Associated morphology	Lateral abnormal curvature	true	Inferred relationship	Some	3
Acrodysplasia scoliosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Acrodysplasia scoliosis	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Acrodysplasia scoliosis	Is a	Congenital deformity of spine	false	Inferred relationship	Some

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
3726306017	Acrodysplasia scoliosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3726307014	Acrodysplasia scoliosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3726308016	Brachydactyly, scoliosis, carpal fusion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3726309012	Prata Liberal Goncalves syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3726310019	A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.	en	Definition	Active	Case sensitive	SNOMED CT core