732250002: Craniosynostosis fibular aplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of lower leg\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Finding of limb structure\Finding of lower limb\Finding of bone of lower limb\Absence of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Finding of limb structure\Finding of lower limb\Finding of bone of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Finding of limb structure\Finding of lower limb\Absence of lower limb\Absence of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of lower leg\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome

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

\Finding of head region\Craniosynostosis fibular aplasia syndrome

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis fibular aplasia syndrome

\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis fibular aplasia syndrome

\Musculoskeletal finding\Bone finding\Finding of bone of lower limb\Absence of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Bone finding\Finding of bone of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Bone finding\Bone absent\Absence of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Bone finding\Bone absent\Congenital absence of skeletal bone\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis fibular aplasia syndrome
\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 fibular aplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis fibular aplasia syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniosynostosis fibular aplasia syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis fibular aplasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniosynostosis fibular aplasia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Craniosynostosis fibular aplasia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Craniosynostosis fibular aplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniosynostosis fibular aplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniosynostosis fibular aplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis fibular aplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniosynostosis fibular aplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis fibular aplasia syndrome
\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 fibular aplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\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 fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniosynostosis fibular aplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis fibular aplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniosynostosis fibular aplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of lower leg\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis fibular aplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Craniosynostosis fibular aplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis fibular aplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniosynostosis fibular aplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis fibular aplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniosynostosis fibular aplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniosynostosis fibular aplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Craniosynostosis fibular aplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Craniosynostosis fibular aplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis fibular aplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniosynostosis fibular aplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis fibular aplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniosynostosis fibular aplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of fibula\Agenesis of fibula\Craniosynostosis fibular aplasia syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3464760016 Craniosynostosis fibular aplasia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3464761017 Craniosynostosis fibular aplasia syndrome en Synonym Active Case insensitive SNOMED CT core
3464762012 Lowry syndrome en Synonym Active Case sensitive SNOMED CT core
3464763019 An extremely rare genetic disease reported in only two brothers to date with the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal. There have been no further reports in the literature since 1972. en Definition Inactive Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniosynostosis fibular aplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Craniosynostosis fibular aplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Craniosynostosis fibular aplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Craniosynostosis fibular aplasia syndrome	Finding site	Structure of coronal suture of skull	true	Inferred relationship	Some	1
Craniosynostosis fibular aplasia syndrome	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	1
Craniosynostosis fibular aplasia syndrome	Finding site	Entire fibula	true	Inferred relationship	Some	2
Craniosynostosis fibular aplasia syndrome	Associated morphology	Agenesis	true	Inferred relationship	Some	2
Craniosynostosis fibular aplasia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome	Is a	Agenesis of fibula	true	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome	Is a	Finding of head region	true	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome	Is a	Congenital anomaly of skull	false	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome	Is a	Congenital absence of fibula	false	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome	Is a	Congenital anomaly of bone and joint	true	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Craniosynostosis fibular aplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Craniosynostosis fibular aplasia syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	2
Craniosynostosis fibular aplasia syndrome	Finding site	Structure of coronal suture of skull	false	Inferred relationship	Some	2
Craniosynostosis fibular aplasia syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	3
Craniosynostosis fibular aplasia syndrome	Finding site	Bone structure of fibula	false	Inferred relationship	Some	3

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3464760016	Craniosynostosis fibular aplasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3464761017	Craniosynostosis fibular aplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3464762012	Lowry syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3464763019	An extremely rare genetic disease reported in only two brothers to date with the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal. There have been no further reports in the literature since 1972.	en	Definition	Inactive	Case sensitive	SNOMED CT core