268262006: Acrocephalosyndactyly (disorder)

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

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

400910012 Acrocephalosyndactyly en Synonym Active Entire term case insensitive SNOMED CT core module
400911011 Apert's syndrome en Synonym Inactive Entire term case sensitive SNOMED CT core module
660982014 Acrocephalosyndactyly (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrocephalosyndactyly	Is a	Multisystem disorder A-B	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly	Is a	Multisystem disorder	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly	Is a	Multiple congenital malformations	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Acrocephalosyndactyly	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly	Is a	Congenital malformation syndrome	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly	Associated morphology	Congenital premature fusion	true	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly	Finding site	Joint structure of suture of skull	true	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly	Is a	Craniosynostosis syndrome	true	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly	Is a	Syndactyly	true	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly	Associated morphology	Congenital premature fusion	false	Inferred relationship	Existential restriction modifier	3
Acrocephalosyndactyly	Finding site	Joint structure of suture of skull	false	Inferred relationship	Existential restriction modifier	3
Acrocephalosyndactyly	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acrocephalosyndactyly type I	Is a	True	Acrocephalosyndactyly	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly (Pfeiffer)	Is a	False	Acrocephalosyndactyly	Inferred relationship	Existential restriction modifier
Acrocephalopolysyndactyly	Is a	True	Acrocephalosyndactyly	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type V	Is a	True	Acrocephalosyndactyly	Inferred relationship	Existential restriction modifier
Craniosynostosis Philadelphia type	Is a	False	Acrocephalosyndactyly	Inferred relationship	Existential restriction modifier
Curry Jones syndrome	Is a	False	Acrocephalosyndactyly	Inferred relationship	Existential restriction modifier
Saethre-Chotzen syndrome	Is a	True	Acrocephalosyndactyly	Inferred relationship	Existential restriction modifier
Summitt syndrome	Is a	True	Acrocephalosyndactyly	Inferred relationship	Existential restriction modifier
Craniofrontonasal dysplasia with Poland anomaly syndrome	Is a	False	Acrocephalosyndactyly	Inferred relationship	Existential restriction modifier
Jackson-Weiss syndrome	Is a	True	Acrocephalosyndactyly	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
400910012	Acrocephalosyndactyly	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
400911011	Apert's syndrome	en	Synonym	Inactive	Entire term case sensitive	SNOMED CT core module
660982014	Acrocephalosyndactyly (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module