720606005: syndroom van craniosynostose, congenitale hartafwijking en verstandelijke beperking (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Head finding (finding)\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Cardiocranial syndrome Pfeiffer type (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Cardiocranial syndrome Pfeiffer type (disorder)

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

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Only initial character case insensitive (core metadata concept) SNOMED CT core

3321521017 Cardiocranial syndrome Pfeiffer type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3321522012 Craniosynostosis with congenital heart disease and intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3321523019 Pfeiffer Singer Zschiesche syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3321524013 Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6996691000146110 cardiocraniaalsyndroom Pfeiffer-type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7016411000146110 syndroom van craniosynostose, congenitale hartafwijking en mentale retardatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7016431000146115 syndroom van Pfeiffer-Singer-Zschiesche nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7494951000146117 syndroom van craniosynostose, congenitale hartafwijking en verstandelijke beperking (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7719091000146119 syndroom van craniosynostose, congenitale hartafwijking en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3321520016	Cardiocranial syndrome Pfeiffer type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321521017	Cardiocranial syndrome Pfeiffer type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321522012	Craniosynostosis with congenital heart disease and intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321523019	Pfeiffer Singer Zschiesche syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321524013	Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6996691000146110	cardiocraniaalsyndroom Pfeiffer-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7016411000146110	syndroom van craniosynostose, congenitale hartafwijking en mentale retardatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7016431000146115	syndroom van Pfeiffer-Singer-Zschiesche	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7494951000146117	syndroom van craniosynostose, congenitale hartafwijking en verstandelijke beperking (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7719091000146119	syndroom van craniosynostose, congenitale hartafwijking en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core