1003877009: Pfeiffer syndrome type 1 (disorder)

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

\Head finding (finding)\Cranial suture finding (finding)\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)\Pfeiffer syndrome type 1 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)\Pfeiffer syndrome type 1 (disorder)

\Finding of limb structure (finding)\Disorder of limb\...

\Disorder of digit\Congenital anomaly of digit\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)\Pfeiffer syndrome type 1 (disorder)

\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)\Pfeiffer syndrome type 1 (disorder)

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

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

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pfeiffer syndrome type 1 (disorder)	Is a	Acrocephalosyndactyly type V (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Pfeiffer syndrome type 1 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pfeiffer syndrome type 1 (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pfeiffer syndrome type 1 (disorder)	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pfeiffer syndrome type 1 (disorder)	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pfeiffer syndrome type 1 (disorder)	Associated morphology	Congenital premature fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pfeiffer syndrome type 1 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pfeiffer syndrome type 1 (disorder)	Finding site	Joint structure of suture of skull	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pfeiffer syndrome type 1 (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pfeiffer syndrome type 1 (disorder)	Associated morphology	Premature fusion (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pfeiffer syndrome type 1 (disorder)	Associated morphology	Abnormally fused structure (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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
4166875013	Pfeiffer syndrome type 1 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4166876014	Pfeiffer syndrome type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4166875013	Pfeiffer syndrome type 1 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4166876014	Pfeiffer syndrome type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6446501000241114	syndrome de Pfeiffer classique	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6446511000241111	syndrome de Pfeiffer de type 1	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6446501000241114	syndrome de Pfeiffer classique	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6446511000241111	syndrome de Pfeiffer de type 1	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module