70410008: Acrocephalosyndactyly type V (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\Acrocephalosyndactyly type V (disorder)
\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\Acrocephalosyndactyly type V (disorder)
\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\Acrocephalosyndactyly type V (disorder)
\Finding by site\Finding of body region\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Finding by site\Finding of body region\Joint finding\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Finding by site\Finding of body region\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\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\Acrocephalosyndactyly type V (disorder)
\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\Acrocephalosyndactyly type V (disorder)
\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\Acrocephalosyndactyly type V (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V (disorder)
\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\Acrocephalosyndactyly type V (disorder)
\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\Acrocephalosyndactyly type V (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Finding by site\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Finding by site\Musculoskeletal finding\Joint finding\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Finding by site\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V (disorder)
\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\Acrocephalosyndactyly type V (disorder)
\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\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 by body site (disorder)\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V (disorder)
\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\Acrocephalosyndactyly type V (disorder)
\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\Acrocephalosyndactyly type V (disorder)
\Disease\Disorder by body site (disorder)\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Disease\Disorder by body site (disorder)\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Disease\Disorder by body site (disorder)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Disease\Congenital disease\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\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\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:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
116968013	Pfeiffer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
116969017	Pfeiffer-type acrocephalosyndactyly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
2816529011	Acrocephalosyndactyly type V (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
2816530018	Acrocephalosyndactyly type V	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3497293010	Acrocephalosyndactyly type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
1837631000052113	Pfeiffers syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (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 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	nagel, struktur	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	Developmental anomaly (morphologic abnormality)	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	multisystemsjukdom	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	nagel, struktur	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	nagel, struktur	false	Inferred relationship	Some	3
Acrocephalosyndactyly type V (disorder)	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Finding site	nagel, struktur	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	kongenital dysplasi	false	Inferred relationship	Some	5
Acrocephalosyndactyly type V (disorder)	Finding site	nagel, struktur	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Finding site	nagel, struktur	false	Inferred relationship	Some	4
Acrocephalosyndactyly type V (disorder)	Finding site	nagel, struktur	false	Inferred relationship	Some	3
Acrocephalosyndactyly type V (disorder)	Finding site	nagel, struktur	false	Inferred relationship	Some	4
Acrocephalosyndactyly type V (disorder)	Finding site	nagel, struktur	false	Inferred relationship	Some	3
Acrocephalosyndactyly type V (disorder)	Finding site	nagel, struktur	false	Inferred relationship	Some	4
Acrocephalosyndactyly type V (disorder)	Finding site	nagel, struktur	false	Inferred relationship	Some	3
Acrocephalosyndactyly type V (disorder)	Finding site	nagel, struktur	false	Inferred relationship	Some	4
Acrocephalosyndactyly type V (disorder)	Finding site	nagel, struktur	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Finding site	nagel, struktur	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	kongenital anomali	false	Inferred relationship	Some	3
Acrocephalosyndactyly type V (disorder)	Associated morphology	Congenital premature fusion	true	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	medfödd missbildning	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Finding site	Hand structure	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Finding site	Hand structure	false	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Associated morphology	medfödd missbildning	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	Developmental anomaly (morphologic abnormality)	false	Inferred relationship	Some	2
Acrocephalosyndactyly type V (disorder)	Finding site	Thumb structure	false	Inferred relationship	Some	2
Acrocephalosyndactyly type V (disorder)	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	3
Acrocephalosyndactyly type V (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Acrocephalosyndactyly type V (disorder)	Associated morphology	Congenital abnormal fusion	true	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

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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