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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

314772015 Acrocephalosyndactyly (Apert) en Synonym Active Only initial character case insensitive SNOMED CT core module
590597012 Acrocephalosyndactyly (Apert) (disorder) en Fully specified name Inactive Only initial character case insensitive SNOMED CT core module
2816564019 Acrocephalosyndactyly type I en Synonym Active Only initial character case insensitive SNOMED CT core module
2816565018 Apert syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
2816566017 Acrocephalosyndactyly type I (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrocephalosyndactyly type I	Is a	Acrocephalosyndactyly	true	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type I	Is a	Craniosynostosis syndrome	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type I	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type I	Is a	Syndactyly	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type I	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type I	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type I	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type I	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type I	Finding site	Joint structure of suture of skull	false	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly type I	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier	3
Acrocephalosyndactyly type I	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type I	Associated morphology	Congenital premature fusion	false	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly type I	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	3
Acrocephalosyndactyly type I	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type I	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type I	Finding site	Joint structure of suture of skull	false	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly type I	Associated morphology	Congenital premature fusion	false	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly type I	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier	3
Acrocephalosyndactyly type I	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	3
Acrocephalosyndactyly type I	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Acrocephalosyndactyly type I	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Acrocephalosyndactyly type I	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier	5
Acrocephalosyndactyly type I	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	5
Acrocephalosyndactyly type I	Associated morphology	Congenital premature fusion	false	Inferred relationship	Existential restriction modifier	4
Acrocephalosyndactyly type I	Finding site	Joint structure of suture of skull	false	Inferred relationship	Existential restriction modifier	4
Acrocephalosyndactyly type I	Associated morphology	Congenital premature fusion	true	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type I	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly type I	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly type I	Finding site	Joint structure of suture of skull	true	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type I	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type I	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly type I	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly type I	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type I	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

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
314772015	Acrocephalosyndactyly (Apert)	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
590597012	Acrocephalosyndactyly (Apert) (disorder)	en	Fully specified name	Inactive	Only initial character case insensitive	SNOMED CT core module
2816564019	Acrocephalosyndactyly type I	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
2816565018	Apert syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2816566017	Acrocephalosyndactyly type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module