70410008: Acrocephalosyndactyly type V (disorder)

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

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V
\Disease\Genetic disease\Acrocephalosyndactyly\Acrocephalosyndactyly type V
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Acrocephalosyndactyly type V
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Acrocephalosyndactyly type V
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V
\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
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalosyndactyly type V
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalosyndactyly type V
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly\Acrocephalosyndactyly type V
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalosyndactyly type V
\Disease\Developmental disorder\Developmental hereditary disorder\Acrocephalosyndactyly type V
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly\Acrocephalosyndactyly type V
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalosyndactyly type V

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

Descriptions:

Id Description Lang Type Status Case? Module

116968013 Pfeiffer syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
116969017 Pfeiffer-type acrocephalosyndactyly en Synonym Active Entire term case sensitive SNOMED CT core module
116970016 Acrocephalosyndactyly, type IV en Synonym Inactive Only initial character case insensitive SNOMED CT core module
810463010 Pfeiffer syndrome (disorder) en Fully specified name Inactive Entire term case sensitive SNOMED CT core module
1233267015 Oto-onychoperoneal syndrome en Synonym Inactive Only initial character case insensitive SNOMED CT core module
1233268013 Pfeiffer syndrome - oto-onychoperoneal en Synonym Inactive Entire term case sensitive SNOMED CT core module
2816529011 Acrocephalosyndactyly type V (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
2816530018 Acrocephalosyndactyly type V en Synonym Active Only initial character case insensitive SNOMED CT core module
3497293010 Acrocephalosyndactyly type 5 en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrocephalosyndactyly type V	Is a	Syndactyly	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type V	Is a	Disorder of skin AND/OR subcutaneous tissue of head	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type V	Is a	Multisystem disorder O-P	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type V	Is a	Craniosynostosis syndrome	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type V	Is a	Ectodermal dysplasia with nail defect	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type V	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier	4
Acrocephalosyndactyly type V	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	3
Acrocephalosyndactyly type V	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Associated morphology	Abnormally short and broad growth	false	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly type V	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier	3
Acrocephalosyndactyly type V	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type V	Associated morphology	Congenital webbing	false	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type V	Finding site	Joint structure of suture of skull	true	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Is a	Multisystem disorder	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type V	Is a	Syndactyly	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type V	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type V	Is a	Hereditary disorder of the integument	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type V	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type V	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier	3
Acrocephalosyndactyly type V	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly type V	Associated morphology	Deformity	false	Inferred relationship	Existential restriction modifier	6
Acrocephalosyndactyly type V	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	5
Acrocephalosyndactyly type V	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier	3
Acrocephalosyndactyly type V	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier	4
Acrocephalosyndactyly type V	Is a	Congenital anomaly of nail	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type V	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type V	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	5
Acrocephalosyndactyly type V	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier	4
Acrocephalosyndactyly type V	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier	3
Acrocephalosyndactyly type V	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier	4
Acrocephalosyndactyly type V	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier	3
Acrocephalosyndactyly type V	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier	4
Acrocephalosyndactyly type V	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier	3
Acrocephalosyndactyly type V	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier	4
Acrocephalosyndactyly type V	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier	6
Acrocephalosyndactyly type V	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type V	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	3
Acrocephalosyndactyly type V	Associated morphology	Congenital premature fusion	true	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Finding site	Joint structure of suture of skull	false	Inferred relationship	Existential restriction modifier	4
Acrocephalosyndactyly type V	Is a	Congenital malformation of thumb	false	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type V	Is a	Acrocephalosyndactyly	true	Inferred relationship	Existential restriction modifier
Acrocephalosyndactyly type V	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Finding site	Hand structure	false	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Finding site	Hand structure	false	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Finding site	Thumb structure	false	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Finding site	Thumb structure	false	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly type V	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly type V	Finding site	Thumb structure	false	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly type V	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier	3
Acrocephalosyndactyly type V	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Acrocephalosyndactyly type V	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly type V	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly type V	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	2
Acrocephalosyndactyly type V	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Acrocephalosyndactyly type V	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pfeiffer syndrome type 1	Is a	True	Acrocephalosyndactyly type V	Inferred relationship	Existential restriction modifier
Pfeiffer syndrome type 2	Is a	True	Acrocephalosyndactyly type V	Inferred relationship	Existential restriction modifier
Pfeiffer syndrome type 3	Is a	True	Acrocephalosyndactyly type V	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
116968013	Pfeiffer syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
116969017	Pfeiffer-type acrocephalosyndactyly	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
116970016	Acrocephalosyndactyly, type IV	en	Synonym	Inactive	Only initial character case insensitive	SNOMED CT core module
810463010	Pfeiffer syndrome (disorder)	en	Fully specified name	Inactive	Entire term case sensitive	SNOMED CT core module
1233267015	Oto-onychoperoneal syndrome	en	Synonym	Inactive	Only initial character case insensitive	SNOMED CT core module
1233268013	Pfeiffer syndrome - oto-onychoperoneal	en	Synonym	Inactive	Entire term case sensitive	SNOMED CT core module
2816529011	Acrocephalosyndactyly type V (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
2816530018	Acrocephalosyndactyly type V	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3497293010	Acrocephalosyndactyly type 5	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module