205260006: Acrocephalopolysyndactyly (disorder)

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

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

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

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

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

\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

314774019 Acrocephalopolysyndactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

590600013 Acrocephalopolysyndactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4207851000005119 akrocefalopolysyndaktyli da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrocephalopolysyndactyly	Is a	Acrocephalosyndactyly	true	Inferred relationship	Some
Acrocephalopolysyndactyly	Associated morphology	Kongenit malformation	false	Inferred relationship	Some
Acrocephalopolysyndactyly	Occurrence	Congenital	true	Inferred relationship	Some	3
Acrocephalopolysyndactyly	Occurrence	Congenital	true	Inferred relationship	Some	2
Acrocephalopolysyndactyly	Associated morphology	dysgenese	false	Inferred relationship	Some	1
Acrocephalopolysyndactyly	Occurrence	Congenital	true	Inferred relationship	Some	1
Acrocephalopolysyndactyly	Associated morphology	kongenit præmatur sammenvoksning	false	Inferred relationship	Some	1
Acrocephalopolysyndactyly	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	1
Acrocephalopolysyndactyly	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Acrocephalopolysyndactyly	Associated morphology	kongenit abnorm sammenvoksning	false	Inferred relationship	Some	2
Acrocephalopolysyndactyly	Finding site	Digit structure	true	Inferred relationship	Some	2
Acrocephalopolysyndactyly	Associated morphology	kongenit præmatur sammenvoksning	false	Inferred relationship	Some	3
Acrocephalopolysyndactyly	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	3
Acrocephalopolysyndactyly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Acrocephalopolysyndactyly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Acrocephalopolysyndactyly	Is a	Polysyndactyly	true	Inferred relationship	Some
Acrocephalopolysyndactyly	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	3
Acrocephalopolysyndactyly	Finding site	Digit structure	true	Inferred relationship	Some	3
Acrocephalopolysyndactyly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Acrocephalopolysyndactyly	Associated morphology	Premature fusion	true	Inferred relationship	Some	1
Acrocephalopolysyndactyly	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
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.	Is a	True	Acrocephalopolysyndactyly	Inferred relationship	Some
Acrocephalopolysyndactyly type III (disorder)	Is a	True	Acrocephalopolysyndactyly	Inferred relationship	Some
Acrocephalopolysyndactyly type IV	Is a	False	Acrocephalopolysyndactyly	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
314774019	Acrocephalopolysyndactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
590600013	Acrocephalopolysyndactyly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4207851000005119	akrocefalopolysyndaktyli	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)