205258009: acrocefalosyndactylie type 1 (aandoening)

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

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

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

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

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

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

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

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
Acrocephalosyndactyly type I	Is a	Acrocephalosyndactyly	true	Inferred relationship	Some
Acrocephalosyndactyly type I	Is a	Craniosynostosis syndrome	false	Inferred relationship	Some
Acrocephalosyndactyly type I	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Acrocephalosyndactyly type I	Is a	Syndactyly (disorder)	false	Inferred relationship	Some
Acrocephalosyndactyly type I	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Acrocephalosyndactyly type I	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Acrocephalosyndactyly type I	Occurrence	Congenital	false	Inferred relationship	Some
Acrocephalosyndactyly type I	Finding site	Bone structure of cranium	false	Inferred relationship	Some	1
Acrocephalosyndactyly type I	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	2
Acrocephalosyndactyly type I	Associated morphology	congenitale afwijkende fusie	false	Inferred relationship	Some	3
Acrocephalosyndactyly type I	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Acrocephalosyndactyly type I	Associated morphology	congenitale premature fusie	false	Inferred relationship	Some	2
Acrocephalosyndactyly type I	Finding site	Digit structure	false	Inferred relationship	Some	3
Acrocephalosyndactyly type I	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Acrocephalosyndactyly type I	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Acrocephalosyndactyly type I	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	2
Acrocephalosyndactyly type I	Associated morphology	congenitale premature fusie	false	Inferred relationship	Some	2
Acrocephalosyndactyly type I	Associated morphology	congenitale afwijkende fusie	false	Inferred relationship	Some	3
Acrocephalosyndactyly type I	Finding site	Digit structure	false	Inferred relationship	Some	3
Acrocephalosyndactyly type I	Occurrence	Congenital	false	Inferred relationship	Some	4
Acrocephalosyndactyly type I	Occurrence	Congenital	false	Inferred relationship	Some	5
Acrocephalosyndactyly type I	Associated morphology	congenitale afwijkende fusie	false	Inferred relationship	Some	5
Acrocephalosyndactyly type I	Finding site	Digit structure	false	Inferred relationship	Some	5
Acrocephalosyndactyly type I	Associated morphology	congenitale premature fusie	false	Inferred relationship	Some	4
Acrocephalosyndactyly type I	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	4
Acrocephalosyndactyly type I	Associated morphology	congenitale premature fusie	false	Inferred relationship	Some	1
Acrocephalosyndactyly type I	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Acrocephalosyndactyly type I	Associated morphology	congenitale afwijkende fusie	false	Inferred relationship	Some	2
Acrocephalosyndactyly type I	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	1
Acrocephalosyndactyly type I	Occurrence	Congenital	true	Inferred relationship	Some	1
Acrocephalosyndactyly type I	Occurrence	Congenital	true	Inferred relationship	Some	2
Acrocephalosyndactyly type I	Finding site	Digit structure	true	Inferred relationship	Some	2
Acrocephalosyndactyly type I	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Acrocephalosyndactyly type I	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Acrocephalosyndactyly type I	Associated morphology	Premature fusion	true	Inferred relationship	Some	1
Acrocephalosyndactyly type I	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
314772015	Acrocephalosyndactyly (Apert)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2816564019	Acrocephalosyndactyly type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2816565018	Apert syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2816566017	Acrocephalosyndactyly type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6324251000146113	acrocefalosyndactylie type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6324261000146111	syndroom van Apert	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6324271000146117	acrocefalosyndactylie type 1 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6324291000146118	Apert-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6324301000146119	acrocraniosyndactylie type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6324431000146118	ACS 1	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13084321000146110	Aangeboren aandoening met abnormale schedelvorm, onderlinge verkleving van vingers en tenen en regelmatig verstandelijke achterstand.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)