1003877009: acrocefalosyndactylie type 5 subtype 1 (aandoening)

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

\Head finding (finding)\Cranial suture 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\Disorder of limb (disorder)\...

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

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

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

\Disease\Disorder of joint region\Arthropathy (disorder)\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 (disorder)\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\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 (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)\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 (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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)\Pfeiffer syndrome type 1 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V (disorder)\Pfeiffer syndrome type 1 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acrocephalosyndactyly type V (disorder)\Pfeiffer syndrome type 1 (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\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)\Pfeiffer syndrome type 1 (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\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)\Pfeiffer syndrome type 1 (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\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)\Pfeiffer syndrome type 1 (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalosyndactyly type V (disorder)\Pfeiffer syndrome type 1 (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\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\Developmental hereditary disorder\Acrocephalosyndactyly type V (disorder)\Pfeiffer syndrome type 1 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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\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\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\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\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	Some
Pfeiffer syndrome type 1 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Pfeiffer syndrome type 1 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Pfeiffer syndrome type 1 (disorder)	Associated morphology	congenitale afwijkende fusie	false	Inferred relationship	Some	1
Pfeiffer syndrome type 1 (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	1
Pfeiffer syndrome type 1 (disorder)	Associated morphology	congenitale premature fusie	false	Inferred relationship	Some	2
Pfeiffer syndrome type 1 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Pfeiffer syndrome type 1 (disorder)	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	2
Pfeiffer syndrome type 1 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Pfeiffer syndrome type 1 (disorder)	Associated morphology	Premature fusion	true	Inferred relationship	Some	2
Pfeiffer syndrome type 1 (disorder)	Associated morphology	Abnormally fused structure (morphologic abnormality)	true	Inferred relationship	Some	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
12152591000146118	Pfeiffer-syndroom type 1	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12152601000146111	syndroom van Pfeiffer type 1	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12545931000146110	acrocefalosyndactylie type 5 subtype 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12550021000146118	acrocefalosyndactylie type 5 subtype 1 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)