268262006: Acrocephalosyndactyly (disorder)

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

\Finding by site\Finding of body region\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Finding by site\Finding of body region\Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly
\Finding by site\Finding of body region\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly
\Finding by site\Finding of body region\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Finding by site\Finding of body region\Joint finding\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Finding by site\Finding of body region\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Finding by site\Disorder by body site (disorder)\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Finding by site\Disorder by body site (disorder)\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
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Finding by site\Disorder by body site (disorder)\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly
\Finding by site\Disorder by body site (disorder)\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly
\Finding by site\Disorder by body site (disorder)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Finding by site\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Finding by site\Musculoskeletal finding\Joint finding\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Finding by site\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly

\Disease\Genetic disease\Acrocephalosyndactyly
\Disease\Disorder by body site (disorder)\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Disease\Disorder by body site (disorder)\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
\Disease\Disorder by body site (disorder)\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 by body site (disorder)\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly
\Disease\Disorder by body site (disorder)\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly
\Disease\Disorder by body site (disorder)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
400910012	Acrocephalosyndactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
660982014	Acrocephalosyndactyly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	Concept inactivation indicator reference set: Ambiguous
2540391000052118	akrocefalosyndaktyli	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrocephalosyndactyly	Is a	Multisystem disorder A-B	false	Inferred relationship	Some
Acrocephalosyndactyly	Is a	multisystemsjukdom	false	Inferred relationship	Some
Acrocephalosyndactyly	Is a	multipla medfödda missbildningar	false	Inferred relationship	Some
Acrocephalosyndactyly	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Acrocephalosyndactyly	Occurrence	Congenital	false	Inferred relationship	Some	3
Acrocephalosyndactyly	Occurrence	Congenital	true	Inferred relationship	Some	2
Acrocephalosyndactyly	Is a	Congenital malformation syndrome (disorder)	false	Inferred relationship	Some
Acrocephalosyndactyly	Associated morphology	Developmental anomaly (morphologic abnormality)	false	Inferred relationship	Some	1
Acrocephalosyndactyly	Occurrence	Congenital	true	Inferred relationship	Some	1
Acrocephalosyndactyly	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	2
Acrocephalosyndactyly	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	2
Acrocephalosyndactyly	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Acrocephalosyndactyly	Is a	Syndactyly (disorder)	true	Inferred relationship	Some
Acrocephalosyndactyly	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Acrocephalosyndactyly	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	2
Acrocephalosyndactyly	Finding site	Digit structure	false	Inferred relationship	Some	2
Acrocephalosyndactyly	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	3
Acrocephalosyndactyly	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	3
Acrocephalosyndactyly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Acrocephalosyndactyly	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	1
Acrocephalosyndactyly	Finding site	Digit structure	true	Inferred relationship	Some	1
Acrocephalosyndactyly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Acrocephalosyndactyly	Is a	Genetic disease	true	Inferred relationship	Some
Acrocephalosyndactyly	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some

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

This concept is not in any reference sets

Back to Start