720606005: Cardiocranial syndrome Pfeiffer type (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiocranial syndrome Pfeiffer type

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cardiocranial syndrome Pfeiffer type

\Finding of head and neck region\Head finding\...

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Cardiocranial syndrome Pfeiffer type

\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Cardiocranial syndrome Pfeiffer type

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Cardiocranial syndrome Pfeiffer type
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiocranial syndrome Pfeiffer type

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

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cardiocranial syndrome Pfeiffer type
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cardiocranial syndrome Pfeiffer type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cardiocranial syndrome Pfeiffer type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Cardiocranial syndrome Pfeiffer type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cardiocranial syndrome Pfeiffer type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cardiocranial syndrome Pfeiffer type
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Cardiocranial syndrome Pfeiffer type
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Cardiocranial syndrome Pfeiffer type
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cardiocranial syndrome Pfeiffer type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cardiocranial syndrome Pfeiffer type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cardiocranial syndrome Pfeiffer type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cardiocranial syndrome Pfeiffer type
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Cardiocranial syndrome Pfeiffer type
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Cardiocranial syndrome Pfeiffer type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Cardiocranial syndrome Pfeiffer type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cardiocranial syndrome Pfeiffer type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Disease\Developmental disorder\Developmental hereditary disorder\Cardiocranial syndrome Pfeiffer type
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Cardiocranial syndrome Pfeiffer type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Cardiocranial syndrome Pfeiffer type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cardiocranial syndrome Pfeiffer type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Cardiocranial syndrome Pfeiffer type
\Disease\Developmental disorder\Developmental delay\Cardiocranial syndrome Pfeiffer type

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3321520016 Cardiocranial syndrome Pfeiffer type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3321521017 Cardiocranial syndrome Pfeiffer type en Synonym Active Initial character case insensitive SNOMED CT core

3321522012 Craniosynostosis with congenital heart disease and intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3321523019 Pfeiffer Singer Zschiesche syndrome en Synonym Active Case sensitive SNOMED CT core

3321524013 Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis en Synonym Active Case insensitive SNOMED CT core

3321525014 An extremely rare disorder found in less than ten patients worldwide with characteristics of congenital heart defect, sagittal craniosynostosis and severe developmental delay. Genital and renal anomalies, and various dysmorphic features may be present. Joint and palpebral abnormalities may also occur. The occurrence of the syndrome in a brother-sister sibship supports the hypothesis of autosomal recessive inheritance. Autosomal dominant inheritance and submicroscopic deletions have also been proposed as possible causes. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cardiocranial syndrome Pfeiffer type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Cardiocranial syndrome Pfeiffer type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Cardiocranial syndrome Pfeiffer type	Occurrence	Congenital	true	Inferred relationship	Some	1
Cardiocranial syndrome Pfeiffer type	Finding site	Structure of sagittal suture of skull	true	Inferred relationship	Some	1
Cardiocranial syndrome Pfeiffer type	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	1
Cardiocranial syndrome Pfeiffer type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Cardiocranial syndrome Pfeiffer type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Cardiocranial syndrome Pfeiffer type	Is a	Congenital heart disease	true	Inferred relationship	Some
Cardiocranial syndrome Pfeiffer type	Is a	Congenital anomaly of skull	false	Inferred relationship	Some
Cardiocranial syndrome Pfeiffer type	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Cardiocranial syndrome Pfeiffer type	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Cardiocranial syndrome Pfeiffer type	Is a	Congenital anomaly of bone and joint	false	Inferred relationship	Some
Cardiocranial syndrome Pfeiffer type	Is a	Developmental delay	true	Inferred relationship	Some
Cardiocranial syndrome Pfeiffer type	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Cardiocranial syndrome Pfeiffer type	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Cardiocranial syndrome Pfeiffer type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Cardiocranial syndrome Pfeiffer type	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	2
Cardiocranial syndrome Pfeiffer type	Occurrence	Congenital	true	Inferred relationship	Some	2
Cardiocranial syndrome Pfeiffer type	Finding site	Structure of sagittal suture of skull	false	Inferred relationship	Some	2
Cardiocranial syndrome Pfeiffer type	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Cardiocranial syndrome Pfeiffer type	Occurrence	Congenital	false	Inferred relationship	Some	3
Cardiocranial syndrome Pfeiffer type	Finding site	Structure of heart	false	Inferred relationship	Some	3
Cardiocranial syndrome Pfeiffer type	Finding site	Structure of heart	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3321520016	Cardiocranial syndrome Pfeiffer type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3321521017	Cardiocranial syndrome Pfeiffer type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3321522012	Craniosynostosis with congenital heart disease and intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321523019	Pfeiffer Singer Zschiesche syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3321524013	Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3321525014	An extremely rare disorder found in less than ten patients worldwide with characteristics of congenital heart defect, sagittal craniosynostosis and severe developmental delay. Genital and renal anomalies, and various dysmorphic features may be present. Joint and palpebral abnormalities may also occur. The occurrence of the syndrome in a brother-sister sibship supports the hypothesis of autosomal recessive inheritance. Autosomal dominant inheritance and submicroscopic deletions have also been proposed as possible causes.	en	Definition	Active	Case sensitive	SNOMED CT core