763830009: Oculomaxillofacial dysostosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Oculomaxillofacial dysostosis

\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\Oculomaxillofacial dysostosis

\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Oculomaxillofacial dysostosis

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\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\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\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\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\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\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Oculomaxillofacial dysostosis

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3644152011 Oculomaxillofacial dysostosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3644153018 Richieri Costa Gorlin syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3644154012 Oculomaxillofacial dysostosis en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculomaxillofacial dysostosis	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Oculomaxillofacial dysostosis	Is a	Dysostosis of bone of skull	true	Inferred relationship	Existential restriction modifier
Oculomaxillofacial dysostosis	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Oculomaxillofacial dysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Oculomaxillofacial dysostosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Oculomaxillofacial dysostosis	Finding site	Bone structure of cranium	true	Inferred relationship	Existential restriction modifier	2
Oculomaxillofacial dysostosis	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Oculomaxillofacial dysostosis	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	2
Oculomaxillofacial dysostosis	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Oculomaxillofacial dysostosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Oculomaxillofacial dysostosis	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier	1
Oculomaxillofacial dysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Oculomaxillofacial dysostosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Oculomaxillofacial dysostosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Oculomaxillofacial dysostosis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Oculomaxillofacial dysostosis	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Oculomaxillofacial dysostosis	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3644152011	Oculomaxillofacial dysostosis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3644153018	Richieri Costa Gorlin syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3644154012	Oculomaxillofacial dysostosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module