1003918009: Pfeiffer syndrome type 3 (disorder)

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3

\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3

\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\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\Pfeiffer syndrome type 3
\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\Pfeiffer syndrome type 3

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\Disease\Genetic disease\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\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\Pfeiffer syndrome type 3
\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\Pfeiffer syndrome type 3
\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\Pfeiffer syndrome type 3
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\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\Pfeiffer syndrome type 3
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\Disease\Developmental disorder\Developmental hereditary disorder\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\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\Pfeiffer syndrome type 3
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 3

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4166965011 Pfeiffer syndrome type 3 (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

4166966012 Pfeiffer syndrome type 3 en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pfeiffer syndrome type 3	Is a	Acrocephalosyndactyly type V	true	Inferred relationship	Existential restriction modifier
Pfeiffer syndrome type 3	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Pfeiffer syndrome type 3	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Pfeiffer syndrome type 3	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Existential restriction modifier	1
Pfeiffer syndrome type 3	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	1
Pfeiffer syndrome type 3	Associated morphology	Congenital premature fusion	true	Inferred relationship	Existential restriction modifier	2
Pfeiffer syndrome type 3	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Pfeiffer syndrome type 3	Finding site	Joint structure of suture of skull	true	Inferred relationship	Existential restriction modifier	2
Pfeiffer syndrome type 3	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	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
4166965011	Pfeiffer syndrome type 3 (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
4166966012	Pfeiffer syndrome type 3	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module