70410008: acrocefalosyndactylie type 5 (aandoening)

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

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

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

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

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

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

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Disease\Genetic disease\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Acrocephalosyndactyly type V (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Acrocephalosyndactyly type V (disorder)
\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 V (disorder)
\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 V (disorder)
\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 V (disorder)
\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 V (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V (disorder)
\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 V (disorder)
\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 V (disorder)
\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 V (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Acrocephalosyndactyly type V (disorder)
\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 V (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)

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 V (disorder)	Is a	Syndactyly	false	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Is a	Disorder of skin AND/OR subcutaneous tissue of head (disorder)	false	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Is a	Multisystem disorder O-P	false	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Is a	Craniosynostosis syndrome	false	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Is a	Ectodermal dysplasia with nail defect	false	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Finding site	structuur van unguis (lichaamsstructuur)	false	Inferred relationship	Some	4
Acrocephalosyndactyly type V (disorder)	Finding site	Digit structure	false	Inferred relationship	Some	3
Acrocephalosyndactyly type V (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Associated morphology	Abnormally short and broad growth	false	Inferred relationship	Some	2
Acrocephalosyndactyly type V (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Associated morphology	Dysplasia	false	Inferred relationship	Some	3
Acrocephalosyndactyly type V (disorder)	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Associated morphology	Congenital webbing	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Is a	multisysteemaandoening	false	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Is a	Syndactyly (disorder)	false	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Finding site	structuur van unguis (lichaamsstructuur)	false	Inferred relationship	Some	3
Acrocephalosyndactyly type V (disorder)	Associated morphology	Dysplasia	false	Inferred relationship	Some	2
Acrocephalosyndactyly type V (disorder)	Associated morphology	Deformity	false	Inferred relationship	Some	6
Acrocephalosyndactyly type V (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	5
Acrocephalosyndactyly type V (disorder)	Finding site	structuur van unguis (lichaamsstructuur)	false	Inferred relationship	Some	3
Acrocephalosyndactyly type V (disorder)	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Finding site	structuur van unguis (lichaamsstructuur)	false	Inferred relationship	Some	4
Acrocephalosyndactyly type V (disorder)	Is a	Congenital anomaly of nail	false	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	5
Acrocephalosyndactyly type V (disorder)	Finding site	structuur van unguis (lichaamsstructuur)	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Finding site	structuur van unguis (lichaamsstructuur)	false	Inferred relationship	Some	4
Acrocephalosyndactyly type V (disorder)	Finding site	structuur van unguis (lichaamsstructuur)	false	Inferred relationship	Some	3
Acrocephalosyndactyly type V (disorder)	Finding site	structuur van unguis (lichaamsstructuur)	false	Inferred relationship	Some	4
Acrocephalosyndactyly type V (disorder)	Finding site	structuur van unguis (lichaamsstructuur)	false	Inferred relationship	Some	3
Acrocephalosyndactyly type V (disorder)	Finding site	structuur van unguis (lichaamsstructuur)	false	Inferred relationship	Some	4
Acrocephalosyndactyly type V (disorder)	Finding site	structuur van unguis (lichaamsstructuur)	false	Inferred relationship	Some	3
Acrocephalosyndactyly type V (disorder)	Finding site	structuur van unguis (lichaamsstructuur)	false	Inferred relationship	Some	4
Acrocephalosyndactyly type V (disorder)	Finding site	structuur van unguis (lichaamsstructuur)	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Finding site	structuur van unguis (lichaamsstructuur)	false	Inferred relationship	Some	6
Acrocephalosyndactyly type V (disorder)	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	3
Acrocephalosyndactyly type V (disorder)	Associated morphology	congenitale premature fusie	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	4
Acrocephalosyndactyly type V (disorder)	Is a	Congenital malformation of thumb (disorder)	false	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Is a	Acrocephalosyndactyly	true	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Finding site	Hand structure	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Finding site	Hand structure	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Finding site	Thumb structure	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Finding site	Thumb structure	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Acrocephalosyndactyly type V (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Acrocephalosyndactyly type V (disorder)	Finding site	Thumb structure	false	Inferred relationship	Some	2
Acrocephalosyndactyly type V (disorder)	Associated morphology	congenitale afwijkende fusie	false	Inferred relationship	Some	3
Acrocephalosyndactyly type V (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Acrocephalosyndactyly type V (disorder)	Associated morphology	congenitale afwijkende fusie	false	Inferred relationship	Some	2
Acrocephalosyndactyly type V (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Acrocephalosyndactyly type V (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	2
Acrocephalosyndactyly type V (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Associated morphology	Premature fusion	true	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Associated morphology	Abnormally fused structure (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pfeiffer syndrome type 1 (disorder)	Is a	True	Acrocephalosyndactyly type V (disorder)	Inferred relationship	Some
Pfeiffer syndrome type 2 (disorder)	Is a	True	Acrocephalosyndactyly type V (disorder)	Inferred relationship	Some
Pfeiffer syndrome type 3 (disorder)	Is a	True	Acrocephalosyndactyly type V (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
116968013	Pfeiffer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
116969017	Pfeiffer-type acrocephalosyndactyly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2816529011	Acrocephalosyndactyly type V (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2816530018	Acrocephalosyndactyly type V	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3497293010	Acrocephalosyndactyly type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6324371000146114	acrocefalosyndactylie type 5	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6324381000146111	acrocraniosyndactylie type 5	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6324391000146113	syndroom van Pfeiffer	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6324401000146111	ACS 5	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6324411000146113	acrocefalosyndactylie type 5 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6324421000146115	Pfeiffer-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)