403767009: Acrocephalopolysyndactyly type II (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\...

\Syndactyly\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II
\Syndactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II

\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II

\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II
\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II
\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II
\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II

\Finding of head and neck region\Head finding\...

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II

\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II

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

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2003. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

1771693010 Acrocephalopolysyndactyly type II (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
1782777015 Acrocephalopolysyndactyly type II en Synonym Active Only initial character case insensitive SNOMED CT core module
1787862010 Summitt syndrome en Synonym Inactive Only initial character case insensitive SNOMED CT core module
3494870015 Carpenter syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3494871016 Acrocephalopolysyndactyly type 2 en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acrocephalopolysyndactyly type III	Is a	False	Acrocephalopolysyndactyly type II	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1771693010	Acrocephalopolysyndactyly type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
1782777015	Acrocephalopolysyndactyly type II	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
1787862010	Summitt syndrome	en	Synonym	Inactive	Only initial character case insensitive	SNOMED CT core module
3494870015	Carpenter syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3494871016	Acrocephalopolysyndactyly type 2	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module