83015004: acrocefalosyndactylie type 3 (aandoening)

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

\Head finding (finding)\Finding of head region\Saethre-Chotzen syndrome
\Head finding (finding)\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Saethre-Chotzen syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Saethre-Chotzen syndrome

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

\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Saethre-Chotzen syndrome

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Saethre-Chotzen syndrome

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

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Saethre-Chotzen syndrome
\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Saethre-Chotzen syndrome
\Disease\Genetic disease\Acrocephalosyndactyly\Saethre-Chotzen syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Saethre-Chotzen syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Saethre-Chotzen syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Saethre-Chotzen syndrome
\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\Saethre-Chotzen syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Saethre-Chotzen syndrome
\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\Saethre-Chotzen syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Saethre-Chotzen syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Saethre-Chotzen syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Saethre-Chotzen syndrome
\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\Saethre-Chotzen syndrome
\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\Saethre-Chotzen syndrome
\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\Saethre-Chotzen syndrome
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Saethre-Chotzen syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Saethre-Chotzen syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Saethre-Chotzen syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Saethre-Chotzen syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly\Saethre-Chotzen syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Saethre-Chotzen syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Saethre-Chotzen syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Saethre-Chotzen syndrome

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Saethre-Chotzen syndrome	Is a	Craniosynostosis syndrome	false	Inferred relationship	Some
Saethre-Chotzen syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	1
Saethre-Chotzen syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Saethre-Chotzen syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Saethre-Chotzen syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some	1
Saethre-Chotzen syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Saethre-Chotzen syndrome	Associated morphology	congenitale premature fusie	false	Inferred relationship	Some	2
Saethre-Chotzen syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	2
Saethre-Chotzen syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Saethre-Chotzen syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Saethre-Chotzen syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	2
Saethre-Chotzen syndrome	Associated morphology	congenitale premature fusie	false	Inferred relationship	Some	2
Saethre-Chotzen syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	4
Saethre-Chotzen syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	3
Saethre-Chotzen syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	3
Saethre-Chotzen syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Saethre-Chotzen syndrome	Associated morphology	congenitale premature fusie	false	Inferred relationship	Some	4
Saethre-Chotzen syndrome	Is a	Acrocephalosyndactyly	true	Inferred relationship	Some
Saethre-Chotzen syndrome	Associated morphology	congenitale afwijkende fusie	false	Inferred relationship	Some	1
Saethre-Chotzen syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Saethre-Chotzen syndrome	Finding site	Digit structure	false	Inferred relationship	Some	1
Saethre-Chotzen syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Saethre-Chotzen syndrome	Associated morphology	congenitale afwijkende fusie	false	Inferred relationship	Some	2
Saethre-Chotzen syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Saethre-Chotzen syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Saethre-Chotzen syndrome	Finding site	Digit structure	true	Inferred relationship	Some	2
Saethre-Chotzen syndrome	Associated morphology	congenitale premature fusie	false	Inferred relationship	Some	1
Saethre-Chotzen syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Saethre-Chotzen syndrome	Is a	Congenital anomaly of bone and joint	false	Inferred relationship	Some
Saethre-Chotzen syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Saethre-Chotzen syndrome	Is a	Congenital anomaly of skull	false	Inferred relationship	Some
Saethre-Chotzen syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Saethre-Chotzen syndrome	Finding site	Structure of coronal suture of skull	true	Inferred relationship	Some	1
Saethre-Chotzen syndrome	Is a	Finding of head region	true	Inferred relationship	Some
Saethre-Chotzen syndrome	Associated morphology	Premature fusion	true	Inferred relationship	Some	1
Saethre-Chotzen syndrome	Associated morphology	Abnormally fused structure (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
137693011	Saethre-Chotzen syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
137694017	Acrocephalosyndactyly, type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
824560018	Saethre-Chotzen syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6727551000146115	acrocefalosyndactylie type 3	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6727561000146117	syndroom van Saethre-Chotzen	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6727571000146111	Saethre-Chotzen-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6727581000146113	acrocefalosyndactylie type 3 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6727591000146110	Chotzen-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6727601000146117	ACS3	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6727611000146115	SCS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13083011000146117	Aangeboren aandoening met abnormale schedelvorm, aan elkaar gegroeide tenen of vingers en soms ook gehoorproblemen en problemen met het hart; de schedelnaden zijn te vroeg aan elkaar gegroeid.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)