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

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

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Id	Description	Lang	Type	Status	Case?	Module
314772015	Acrocephalosyndactyly (Apert)	en	Synonym	Active	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