1003877009: Pfeiffer syndrome type 1 (disorder)

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1

\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1

\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Genetic disease\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Developmental disorder\Developmental hereditary disorder\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalosyndactyly type V\Pfeiffer syndrome type 1

Status: current, Primitive. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4166875013 Pfeiffer syndrome type 1 (disorder) en Fully specified name Active Case sensitive SNOMED CT core

4166876014 Pfeiffer syndrome type 1 en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pfeiffer syndrome type 1	Is a	Acrocephalosyndactyly type V	true	Inferred relationship	Some
Pfeiffer syndrome type 1	Occurrence	Congenital	true	Inferred relationship	Some	1
Pfeiffer syndrome type 1	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Pfeiffer syndrome type 1	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	1
Pfeiffer syndrome type 1	Finding site	Digit structure	true	Inferred relationship	Some	1
Pfeiffer syndrome type 1	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	2
Pfeiffer syndrome type 1	Occurrence	Congenital	true	Inferred relationship	Some	2
Pfeiffer syndrome type 1	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	2
Pfeiffer syndrome type 1	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4166875013	Pfeiffer syndrome type 1 (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
4166876014	Pfeiffer syndrome type 1	en	Synonym	Active	Case sensitive	SNOMED CT core