268262006: acrocefalosyndactylie (aandoening)

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

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

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

\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly

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

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

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	multisysteemaandoening	false	Inferred relationship	Some
Acrocephalosyndactyly	Is a	Multiple congenital malformations	false	Inferred relationship	Some
Acrocephalosyndactyly	Associated morphology	Congenital malformation	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	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Acrocephalosyndactyly	Occurrence	Congenital	true	Inferred relationship	Some	1
Acrocephalosyndactyly	Associated morphology	congenitale premature fusie	false	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	congenitale afwijkende fusie	false	Inferred relationship	Some	2
Acrocephalosyndactyly	Finding site	Digit structure	false	Inferred relationship	Some	2
Acrocephalosyndactyly	Associated morphology	congenitale premature fusie	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	congenitale afwijkende fusie	false	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
Acrocephalosyndactyly	Associated morphology	Premature fusion	true	Inferred relationship	Some	2
Acrocephalosyndactyly	Associated morphology	Abnormally fused structure (morphologic abnormality)	true	Inferred relationship	Some	1

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-syndroom	Is a	False	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

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Id	Description	Lang	Type	Status	Case?	Module
400910012	Acrocephalosyndactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
660982014	Acrocephalosyndactyly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6566841000146113	ACS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6566851000146111	acrocefalosyndactylie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6566861000146114	acrocefalosyndactylie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8182271000146117	acrocephalosyndactylie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)