720818003: Craniosynostosis Philadelphia type (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\Syndactyly\Craniosynostosis Philadelphia type

\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Craniosynostosis Philadelphia type

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

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Philadelphia type

\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Craniosynostosis Philadelphia type

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Craniosynostosis Philadelphia type
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Craniosynostosis Philadelphia type
\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Philadelphia type

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Craniosynostosis Philadelphia type
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Craniosynostosis Philadelphia type
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniosynostosis Philadelphia type
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Craniosynostosis Philadelphia type
\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Philadelphia type
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniosynostosis Philadelphia type
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Philadelphia type
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Philadelphia type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniosynostosis Philadelphia type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Philadelphia type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniosynostosis Philadelphia type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Philadelphia type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Craniosynostosis Philadelphia type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniosynostosis Philadelphia type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Craniosynostosis Philadelphia type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniosynostosis Philadelphia type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Philadelphia type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Craniosynostosis Philadelphia type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniosynostosis Philadelphia type

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Philadelphia type
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniosynostosis Philadelphia type
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Philadelphia type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniosynostosis Philadelphia type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Craniosynostosis Philadelphia type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Craniosynostosis Philadelphia type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniosynostosis Philadelphia type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniosynostosis Philadelphia type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Philadelphia type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniosynostosis Philadelphia type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Philadelphia type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Craniosynostosis Philadelphia type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniosynostosis Philadelphia type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Craniosynostosis Philadelphia type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniosynostosis Philadelphia type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Philadelphia type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Craniosynostosis Philadelphia type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniosynostosis Philadelphia type
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\Craniosynostosis Philadelphia type
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Craniosynostosis Philadelphia type
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Craniosynostosis Philadelphia type
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Craniosynostosis Philadelphia type
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Philadelphia type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Craniosynostosis Philadelphia type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Craniosynostosis Philadelphia type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Philadelphia type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniosynostosis Philadelphia type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Philadelphia type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Craniosynostosis Philadelphia type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniosynostosis Philadelphia type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Craniosynostosis Philadelphia type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Craniosynostosis Philadelphia type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniosynostosis Philadelphia type
\Disease\Developmental disorder\Developmental hereditary disorder\Craniosynostosis Philadelphia type
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Craniosynostosis Philadelphia type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Craniosynostosis Philadelphia type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Philadelphia type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniosynostosis Philadelphia type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Philadelphia type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Craniosynostosis Philadelphia type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniosynostosis Philadelphia type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Craniosynostosis Philadelphia type

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

Descriptions:

Id Description Lang Type Status Case? Module

3322174015 Craniosynostosis Philadelphia type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3322175019 Craniosynostosis Philadelphia type en Synonym Active Initial character case insensitive SNOMED CT core

3322176018 A form of syndromic craniosynostosis with characteristics of sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniosynostosis Philadelphia type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Craniosynostosis Philadelphia type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Craniosynostosis Philadelphia type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Craniosynostosis Philadelphia type	Finding site	Digit structure	true	Inferred relationship	Some	2
Craniosynostosis Philadelphia type	Occurrence	Congenital	true	Inferred relationship	Some	2
Craniosynostosis Philadelphia type	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	2
Craniosynostosis Philadelphia type	Finding site	Bone structure of cranium	true	Inferred relationship	Some	1
Craniosynostosis Philadelphia type	Is a	Disorder of skull	false	Inferred relationship	Some
Craniosynostosis Philadelphia type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Craniosynostosis Philadelphia type	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Craniosynostosis Philadelphia type	Is a	Syndactyly	true	Inferred relationship	Some
Craniosynostosis Philadelphia type	Is a	Congenital anomaly of bone and joint	true	Inferred relationship	Some
Craniosynostosis Philadelphia type	Is a	Congenital abnormality of skull shape	true	Inferred relationship	Some
Craniosynostosis Philadelphia type	Occurrence	Congenital	true	Inferred relationship	Some	1
Craniosynostosis Philadelphia type	Associated morphology	Abnormal shape	true	Inferred relationship	Some	1
Craniosynostosis Philadelphia type	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Craniosynostosis Philadelphia type	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Craniosynostosis Philadelphia type	Is a	Acrocephalosyndactyly	false	Inferred relationship	Some
Craniosynostosis Philadelphia type	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Craniosynostosis Philadelphia type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Craniosynostosis Philadelphia type	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Craniosynostosis Philadelphia type	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	3
Craniosynostosis Philadelphia type	Occurrence	Congenital	true	Inferred relationship	Some	3
Craniosynostosis Philadelphia type	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	3
Craniosynostosis Philadelphia type	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	4
Craniosynostosis Philadelphia type	Occurrence	Congenital	false	Inferred relationship	Some	4
Craniosynostosis Philadelphia type	Finding site	Digit structure	false	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3322174015	Craniosynostosis Philadelphia type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3322175019	Craniosynostosis Philadelphia type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3322176018	A form of syndromic craniosynostosis with characteristics of sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis.	en	Definition	Active	Case sensitive	SNOMED CT core