403768004: Acrocephalopolysyndactyly type III (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)

\Finding of limb structure\Disorder of limb (disorder)\...

\Disorder of digit\Congenital anomaly of digit (disorder)\...

\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Syndactyly (disorder)\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)

\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)

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

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Genetic disease\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\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 III (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type III (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrocephalopolysyndactyly type III (disorder)	Is a	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.	false	Inferred relationship	Some
Acrocephalopolysyndactyly type III (disorder)	Associated morphology	Kongenit malformation	false	Inferred relationship	Some
Acrocephalopolysyndactyly type III (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Acrocephalopolysyndactyly type III (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Acrocephalopolysyndactyly type III (disorder)	Associated morphology	dysgenese	false	Inferred relationship	Some	1
Acrocephalopolysyndactyly type III (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Acrocephalopolysyndactyly type III (disorder)	Associated morphology	kongenit præmatur sammenvoksning	false	Inferred relationship	Some	1
Acrocephalopolysyndactyly type III (disorder)	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	1
Acrocephalopolysyndactyly type III (disorder)	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Acrocephalopolysyndactyly type III (disorder)	Associated morphology	kongenit abnorm sammenvoksning	false	Inferred relationship	Some	2
Acrocephalopolysyndactyly type III (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	2
Acrocephalopolysyndactyly type III (disorder)	Associated morphology	kongenit præmatur sammenvoksning	false	Inferred relationship	Some	3
Acrocephalopolysyndactyly type III (disorder)	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	3
Acrocephalopolysyndactyly type III (disorder)	Is a	Acrocephalopolysyndactyly	true	Inferred relationship	Some
Acrocephalopolysyndactyly type III (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Acrocephalopolysyndactyly type III (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Acrocephalopolysyndactyly type III (disorder)	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	3
Acrocephalopolysyndactyly type III (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	3
Acrocephalopolysyndactyly type III (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Acrocephalopolysyndactyly type III (disorder)	Associated morphology	Premature fusion	true	Inferred relationship	Some	1
Acrocephalopolysyndactyly type III (disorder)	Associated morphology	Fusion that has occurred in a structure that is not normally fused.	true	Inferred relationship	Some	2

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
1771694016	Acrocephalopolysyndactyly type III (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1782778013	Acrocephalopolysyndactyly type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1787863017	Sakati-Nyhan syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3494872011	Acrocephalopolysyndactyly type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4143751000005112	akrocefalopolysyndaktyli, type III	da	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Danish module (core metadata concept)