763830009: Oculomaxillofacial dysostosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis (disorder)
\Head finding (finding)\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)

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

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3644153018 Richieri Costa Gorlin syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3644154012 Oculomaxillofacial dysostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5404230015 Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by 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 and abnormally modeled 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5404231016 Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterised by 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 and abnormally modeled 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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3644152011	Oculomaxillofacial dysostosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644153018	Richieri Costa Gorlin syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3644154012	Oculomaxillofacial dysostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404230015	Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by 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 and abnormally modeled 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404231016	Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterised by 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 and abnormally modeled 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	Entire term case sensitive (core metadata concept)	SNOMED CT core