205258009: Acrocephalosyndactyly type I (disorder)

\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type I
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type I

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Disease\Genetic disease\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type I
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Acrocephalosyndactyly type I
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Acrocephalosyndactyly type I
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type I
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type I
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Disease\Developmental disorder\Developmental hereditary disorder\Acrocephalosyndactyly type I
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type I
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalosyndactyly type I

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2816564019 Acrocephalosyndactyly type I en Synonym Active Initial character case insensitive SNOMED CT core
2816565018 Apert syndrome en Synonym Active Case sensitive SNOMED CT core
2816566017 Acrocephalosyndactyly type I (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
314772015 Acrocephalosyndactyly (Apert) en Synonym Active Initial character case insensitive SNOMED CT core
590597012 Acrocephalosyndactyly (Apert) (disorder) en Fully specified name Inactive Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrocephalosyndactyly type I	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	1
Acrocephalosyndactyly type I	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Acrocephalosyndactyly type I	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	2
Acrocephalosyndactyly type I	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	1
Acrocephalosyndactyly type I	Occurrence	Congenital	true	Inferred relationship	Some	1
Acrocephalosyndactyly type I	Occurrence	Congenital	true	Inferred relationship	Some	2
Acrocephalosyndactyly type I	Finding site	Digit structure	true	Inferred relationship	Some	2
Acrocephalosyndactyly type I	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Acrocephalosyndactyly type I	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Acrocephalosyndactyly type I	Is a	Acrocephalosyndactyly	true	Inferred relationship	Some
Acrocephalosyndactyly type I	Is a	Craniosynostosis syndrome	false	Inferred relationship	Some
Acrocephalosyndactyly type I	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Acrocephalosyndactyly type I	Is a	Syndactyly	false	Inferred relationship	Some
Acrocephalosyndactyly type I	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Acrocephalosyndactyly type I	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Acrocephalosyndactyly type I	Occurrence	Congenital	false	Inferred relationship	Some
Acrocephalosyndactyly type I	Finding site	Bone structure of cranium	false	Inferred relationship	Some	1
Acrocephalosyndactyly type I	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	2
Acrocephalosyndactyly type I	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	3
Acrocephalosyndactyly type I	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Acrocephalosyndactyly type I	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	2
Acrocephalosyndactyly type I	Finding site	Digit structure	false	Inferred relationship	Some	3
Acrocephalosyndactyly type I	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Acrocephalosyndactyly type I	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Acrocephalosyndactyly type I	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	2
Acrocephalosyndactyly type I	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	2
Acrocephalosyndactyly type I	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	3
Acrocephalosyndactyly type I	Finding site	Digit structure	false	Inferred relationship	Some	3
Acrocephalosyndactyly type I	Occurrence	Congenital	false	Inferred relationship	Some	4
Acrocephalosyndactyly type I	Occurrence	Congenital	false	Inferred relationship	Some	5
Acrocephalosyndactyly type I	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	5
Acrocephalosyndactyly type I	Finding site	Digit structure	false	Inferred relationship	Some	5
Acrocephalosyndactyly type I	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	4
Acrocephalosyndactyly type I	Finding site	Joint structure of suture of skull	false	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
2816564019	Acrocephalosyndactyly type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2816565018	Apert syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
2816566017	Acrocephalosyndactyly type I (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
314772015	Acrocephalosyndactyly (Apert)	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
590597012	Acrocephalosyndactyly (Apert) (disorder)	en	Fully specified name	Inactive	Initial character case insensitive	SNOMED CT core