722117000: Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Osteosclerosis, developmental delay, craniosynostosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis, developmental delay, craniosynostosis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3330762013 Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3330765010 Osteosclerosis, developmental delay, craniosynostosis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteosclerosis, developmental delay, craniosynostosis syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Osteosclerosis, developmental delay, craniosynostosis syndrome	Is a	Osteosclerosis	false	Inferred relationship	Existential restriction modifier
Osteosclerosis, developmental delay, craniosynostosis syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Osteosclerosis, developmental delay, craniosynostosis syndrome	Is a	Congenital connective tissue disorder	false	Inferred relationship	Existential restriction modifier
Osteosclerosis, developmental delay, craniosynostosis syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Osteosclerosis, developmental delay, craniosynostosis syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Osteosclerosis, developmental delay, craniosynostosis syndrome	Associated morphology	Bony sclerosis	true	Inferred relationship	Existential restriction modifier	2
Osteosclerosis, developmental delay, craniosynostosis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Osteosclerosis, developmental delay, craniosynostosis syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	2
Osteosclerosis, developmental delay, craniosynostosis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Osteosclerosis, developmental delay, craniosynostosis syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Osteosclerosis, developmental delay, craniosynostosis syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	2
Osteosclerosis, developmental delay, craniosynostosis syndrome	Associated morphology	Bony sclerosis	false	Inferred relationship	Existential restriction modifier	3
Osteosclerosis, developmental delay, craniosynostosis syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	3
Osteosclerosis, developmental delay, craniosynostosis syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Osteosclerosis, developmental delay, craniosynostosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Osteosclerosis, developmental delay, craniosynostosis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Osteosclerosis, developmental delay, craniosynostosis syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Osteosclerosis, developmental delay, craniosynostosis syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Osteosclerosis, developmental delay, craniosynostosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Osteosclerosis, developmental delay, craniosynostosis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330762013	Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3330765010	Osteosclerosis, developmental delay, craniosynostosis syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module