720755009: Craniofacial dyssynostosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\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\Craniofacial dyssynostosis syndrome

\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dyssynostosis syndrome
\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial dyssynostosis syndrome
\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial dyssynostosis syndrome

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Craniofacial dyssynostosis syndrome

\Skull finding\Disorder of skull\Craniofacial dyssynostosis syndrome

\Disorder of head\Disorder of skull\Craniofacial dyssynostosis syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dyssynostosis syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial dyssynostosis syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial dyssynostosis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dyssynostosis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial dyssynostosis syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial dyssynostosis syndrome
\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniofacial dyssynostosis syndrome

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial dyssynostosis syndrome
\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Craniofacial dyssynostosis 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\Craniofacial dyssynostosis syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniofacial dyssynostosis syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial dyssynostosis syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Craniofacial dyssynostosis syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniofacial dyssynostosis syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniofacial dyssynostosis syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniofacial dyssynostosis syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Craniofacial dyssynostosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniofacial dyssynostosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniofacial dyssynostosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniofacial dyssynostosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniofacial dyssynostosis 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\Craniofacial dyssynostosis 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\Craniofacial dyssynostosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial dyssynostosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Craniofacial dyssynostosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniofacial dyssynostosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniofacial dyssynostosis 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\Craniofacial dyssynostosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniofacial dyssynostosis syndrome

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniofacial dyssynostosis syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniofacial dyssynostosis syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniofacial dyssynostosis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniofacial dyssynostosis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Craniofacial dyssynostosis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Craniofacial dyssynostosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniofacial dyssynostosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniofacial dyssynostosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniofacial dyssynostosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniofacial dyssynostosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniofacial dyssynostosis 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\Craniofacial dyssynostosis 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\Craniofacial dyssynostosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial dyssynostosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Craniofacial dyssynostosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniofacial dyssynostosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniofacial dyssynostosis 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\Craniofacial dyssynostosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniofacial dyssynostosis syndrome
\Disease\Disorder of head\Disorder of skull\Craniofacial dyssynostosis syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dyssynostosis syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial dyssynostosis syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Craniofacial dyssynostosis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dyssynostosis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial dyssynostosis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial dyssynostosis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniofacial dyssynostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Craniofacial dyssynostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dyssynostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial dyssynostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial dyssynostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniofacial dyssynostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniofacial dyssynostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniofacial dyssynostosis 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\Craniofacial dyssynostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniofacial dyssynostosis 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\Craniofacial dyssynostosis syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniofacial dyssynostosis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Craniofacial dyssynostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Craniofacial dyssynostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial dyssynostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Craniofacial dyssynostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Craniofacial dyssynostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniofacial dyssynostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Craniofacial dyssynostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniofacial dyssynostosis 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\Craniofacial dyssynostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Craniofacial dyssynostosis syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3322014011 Craniofacial dyssynostosis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3322015012 Craniofacial dyssynostosis syndrome en Synonym Active Case insensitive SNOMED CT core

3322016013 A rare cranial malformation syndrome with characteristics of premature closure of both lambdoid sutures and the posterior sagittal suture resulting in abnormal skull contour and dysmorphic facial features. Short stature, developmental delay, epilepsy and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniofacial dyssynostosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Craniofacial dyssynostosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Craniofacial dyssynostosis syndrome	Finding site	Bone structure of face	true	Inferred relationship	Some	2
Craniofacial dyssynostosis syndrome	Finding site	Bone structure of cranium	true	Inferred relationship	Some	1
Craniofacial dyssynostosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Craniofacial dyssynostosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Craniofacial dyssynostosis syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Craniofacial dyssynostosis syndrome	Is a	Disorder of skull	true	Inferred relationship	Some
Craniofacial dyssynostosis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Craniofacial dyssynostosis syndrome	Is a	Congenital anomaly of face bones	true	Inferred relationship	Some
Craniofacial dyssynostosis syndrome	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Craniofacial dyssynostosis syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Craniofacial dyssynostosis syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Craniofacial dyssynostosis syndrome	Is a	Congenital anomaly of bone and joint	true	Inferred relationship	Some
Craniofacial dyssynostosis syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Craniofacial dyssynostosis syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Craniofacial dyssynostosis syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Craniofacial dyssynostosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Craniofacial dyssynostosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Craniofacial dyssynostosis syndrome	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	3
Craniofacial dyssynostosis syndrome	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	3
Craniofacial dyssynostosis syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Craniofacial dyssynostosis syndrome	Finding site	Bone structure of face	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3322014011	Craniofacial dyssynostosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3322015012	Craniofacial dyssynostosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322016013	A rare cranial malformation syndrome with characteristics of premature closure of both lambdoid sutures and the posterior sagittal suture resulting in abnormal skull contour and dysmorphic facial features. Short stature, developmental delay, epilepsy and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus.	en	Definition	Active	Case sensitive	SNOMED CT core