52616002: Freeman-Sheldon syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Freeman-Sheldon syndrome
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Freeman-Sheldon syndrome

\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Freeman-Sheldon syndrome
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Freeman-Sheldon syndrome

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

\Finding of head region\Finding of face\...

\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Freeman-Sheldon syndrome

\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Freeman-Sheldon syndrome
\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Freeman-Sheldon syndrome
\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Freeman-Sheldon syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Freeman-Sheldon syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Freeman-Sheldon syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Freeman-Sheldon syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Freeman-Sheldon syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Freeman-Sheldon syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Freeman-Sheldon syndrome

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Freeman-Sheldon syndrome
\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 face bones\Freeman-Sheldon syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Freeman-Sheldon syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Freeman-Sheldon syndrome
\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 face bones\Freeman-Sheldon syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Freeman-Sheldon syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Freeman-Sheldon syndrome

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Freeman-Sheldon syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Freeman-Sheldon syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\Freeman-Sheldon syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Distal arthrogryposis syndrome\Freeman-Sheldon syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Freeman-Sheldon syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Freeman-Sheldon 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 abnormality of skull and face bones\Congenital anomaly of face bones\Freeman-Sheldon syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Freeman-Sheldon syndrome
\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 face bones\Freeman-Sheldon syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Freeman-Sheldon syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Freeman-Sheldon syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Freeman-Sheldon syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Freeman-Sheldon syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Freeman-Sheldon syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Freeman-Sheldon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Freeman-Sheldon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Freeman-Sheldon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Freeman-Sheldon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Freeman-Sheldon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Freeman-Sheldon syndrome
\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 face bones\Freeman-Sheldon syndrome
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Freeman-Sheldon syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Freeman-Sheldon syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\Freeman-Sheldon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Freeman-Sheldon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Freeman-Sheldon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Freeman-Sheldon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Freeman-Sheldon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Freeman-Sheldon syndrome
\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 face bones\Freeman-Sheldon syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3425566016 Distal arthrogryposis type 2A en Synonym Active Initial character case insensitive SNOMED CT core

790645014 Freeman-Sheldon syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

87570012 Freeman-Sheldon syndrome en Synonym Active Case sensitive SNOMED CT core

87571011 Whistling face syndrome en Synonym Active Case insensitive SNOMED CT core

3425567013 A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Freeman-Sheldon syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Freeman-Sheldon syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Freeman-Sheldon syndrome	Is a	Congenital anomaly of bone and joint	false	Inferred relationship	Some
Freeman-Sheldon syndrome	Is a	Inherited arthrogryposis	false	Inferred relationship	Some
Freeman-Sheldon syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Freeman-Sheldon syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	3
Freeman-Sheldon syndrome	Interprets	Range of joint movement	true	Inferred relationship	Some	3
Freeman-Sheldon syndrome	Finding site	Structure of joint region	true	Inferred relationship	Some	1
Freeman-Sheldon syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Freeman-Sheldon syndrome	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Freeman-Sheldon syndrome	Is a	Congenital anomaly of face bones	true	Inferred relationship	Some
Freeman-Sheldon syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Freeman-Sheldon syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Freeman-Sheldon syndrome	Finding site	Bone structure of face	false	Inferred relationship	Some	2
Freeman-Sheldon syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Freeman-Sheldon syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Some
Freeman-Sheldon syndrome	Is a	Congenital anomaly of face	false	Inferred relationship	Some
Freeman-Sheldon syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	2
Freeman-Sheldon syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Freeman-Sheldon syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Freeman-Sheldon syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some	3
Freeman-Sheldon syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	2
Freeman-Sheldon syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	3
Freeman-Sheldon syndrome	Finding site	Bone structure of face	false	Inferred relationship	Some	1
Freeman-Sheldon syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Freeman-Sheldon syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Freeman-Sheldon syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Freeman-Sheldon syndrome	Finding site	Bone structure of face	true	Inferred relationship	Some	2
Freeman-Sheldon syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Freeman-Sheldon syndrome	Is a	Distal arthrogryposis syndrome	true	Inferred relationship	Some
Freeman-Sheldon syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Freeman-Sheldon syndrome	Associated morphology	Contracture	true	Inferred relationship	Some	1
Freeman-Sheldon syndrome	Finding site	Joint structure	false	Inferred relationship	Some	1
Freeman-Sheldon syndrome	Finding site	Face structure	false	Inferred relationship	Some
Freeman-Sheldon syndrome	Finding site	Brain structure	false	Inferred relationship	Some	3
Freeman-Sheldon syndrome	Occurrence	Congenital	false	Inferred relationship	Some

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
3425566016	Distal arthrogryposis type 2A	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
790645014	Freeman-Sheldon syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
87570012	Freeman-Sheldon syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
87571011	Whistling face syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3425567013	A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	en	Definition	Active	Case sensitive	SNOMED CT core