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\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\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 skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis

\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\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 skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\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 skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\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 skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis
\Disease\Developmental disorder\Congenital anomaly\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\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 skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis
\Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3644152011 Oculomaxillofacial dysostosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3644153018 Richieri Costa Gorlin syndrome en Synonym Active Case sensitive SNOMED CT core

3644154012 Oculomaxillofacial dysostosis en Synonym Active Case insensitive SNOMED CT core

3644155013 A rare genetic bone developmental disorder with characteristics of short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

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
3644152011	Oculomaxillofacial dysostosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3644153018	Richieri Costa Gorlin syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3644154012	Oculomaxillofacial dysostosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3644155013	A rare genetic bone developmental disorder with characteristics of short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core