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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Acrocephalopolysyndactyly type II
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Acrocephalopolysyndactyly type II
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\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 anomaly\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 anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II
\Disease\Developmental disorder\Developmental hereditary disorder\Acrocephalopolysyndactyly type II
\Disease\Developmental disorder\Congenital anomaly\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 anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II

Status: current, Primitive. Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1771693010 Acrocephalopolysyndactyly type II (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

1782777015 Acrocephalopolysyndactyly type II en Synonym Active Initial character case insensitive SNOMED CT core

3494870015 Carpenter syndrome en Synonym Active Case sensitive SNOMED CT core

3494871016 Acrocephalopolysyndactyly type 2 en Synonym Active Case insensitive SNOMED CT core

3499894017 A subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders. It is a very rare disease; approximately 40 cases have been described in the literature. It is determined by acrocephaly, peculiar facies, brachydactyly and syndactyly in the hands, and preaxial polydactyly and syndactyly of the toes. Marked intrafamilial variability is possible. Inherited as an autosomal recessive trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

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

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
1771693010	Acrocephalopolysyndactyly type II (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
1782777015	Acrocephalopolysyndactyly type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3494870015	Carpenter syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3494871016	Acrocephalopolysyndactyly type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3499894017	A subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders. It is a very rare disease; approximately 40 cases have been described in the literature. It is determined by acrocephaly, peculiar facies, brachydactyly and syndactyly in the hands, and preaxial polydactyly and syndactyly of the toes. Marked intrafamilial variability is possible. Inherited as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core