1010685005: Oculo-auriculo-vertebral spectrum (disorder)

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

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Oculo-auriculo-vertebral spectrum
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Oculo-auriculo-vertebral spectrum
\Finding of back (finding)\Finding of spinal region\Vertebral column finding\Disorder of vertebral column (disorder)\Oculo-auriculo-vertebral spectrum
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Oculo-auriculo-vertebral spectrum
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Oculo-auriculo-vertebral spectrum
\Finding of back (finding)\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Oculo-auriculo-vertebral spectrum

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

\Finding of head region\Finding of face\...

\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum

\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculo-auriculo-vertebral spectrum
\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum

\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Oculo-auriculo-vertebral spectrum

\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Oculo-auriculo-vertebral spectrum
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculo-auriculo-vertebral spectrum
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculo-auriculo-vertebral spectrum
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Oculo-auriculo-vertebral spectrum
\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum

\Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column (disorder)\Oculo-auriculo-vertebral spectrum
\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Oculo-auriculo-vertebral spectrum
\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\Craniofacial microsomia\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\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\Oculo-auriculo-vertebral spectrum
\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 face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculo-auriculo-vertebral spectrum
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Oculo-auriculo-vertebral spectrum
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column (disorder)\Oculo-auriculo-vertebral spectrum
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculo-auriculo-vertebral spectrum
\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\Craniofacial microsomia\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\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\Oculo-auriculo-vertebral spectrum
\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 face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\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\Oculo-auriculo-vertebral spectrum
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\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\Oculo-auriculo-vertebral spectrum
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculo-auriculo-vertebral spectrum
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\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\Oculo-auriculo-vertebral spectrum
\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 face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculo-auriculo-vertebral spectrum

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column (disorder)\Oculo-auriculo-vertebral spectrum
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculo-auriculo-vertebral spectrum
\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\Craniofacial microsomia\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\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\Oculo-auriculo-vertebral spectrum
\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 face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\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\Oculo-auriculo-vertebral spectrum
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\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\Oculo-auriculo-vertebral spectrum
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculo-auriculo-vertebral spectrum
\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\Craniofacial microsomia\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\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\Oculo-auriculo-vertebral spectrum
\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 face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\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\Oculo-auriculo-vertebral spectrum
\Disease\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Oculo-auriculo-vertebral spectrum
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculo-auriculo-vertebral spectrum
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculo-auriculo-vertebral spectrum
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\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\Oculo-auriculo-vertebral spectrum
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Oculo-auriculo-vertebral spectrum
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Oculo-auriculo-vertebral spectrum
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculo-auriculo-vertebral spectrum
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Disease\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\Oculo-auriculo-vertebral spectrum
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculo-auriculo-vertebral spectrum
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Disease\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\Oculo-auriculo-vertebral spectrum
\Disease\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 face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculo-auriculo-vertebral spectrum
\Disease\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Oculo-auriculo-vertebral spectrum
\Disease\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Oculo-auriculo-vertebral spectrum
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Oculo-auriculo-vertebral spectrum
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\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\Oculo-auriculo-vertebral spectrum
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculo-auriculo-vertebral spectrum
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Oculo-auriculo-vertebral spectrum
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Oculo-auriculo-vertebral spectrum
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculo-auriculo-vertebral spectrum
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\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\Oculo-auriculo-vertebral spectrum
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculo-auriculo-vertebral spectrum
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\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\Oculo-auriculo-vertebral spectrum
\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 face bones\Hemifacial microsomia\Oculo-auriculo-vertebral spectrum
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculo-auriculo-vertebral spectrum

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4213511010 Oculo-auriculo-vertebral spectrum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4213512015 Oculoauriculovertebral spectrum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4213513013 Oculo-auriculo-vertebral spectrum (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4213514019 OAV (oculo-auriculo-vertebral) spectrum en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4213637017 A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. The phenotypic spectrum ranges from isolated mild facial asymmetry to severe bilateral craniofacial microsomia and additional multiple extracranial abnormalities. Intelligence is typically normal. The aetiology is poorly understood but is suspected to be heterogeneous and multifactorial. The gene MYT1 (20q13.33) has been implicated in a few rare cases, and chromosomal abnormalities have been associated with some of the congenital malformations associated with this condition. The condition usually occurs sporadically, but autosomal dominant inheritance has been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4213638010 A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. The phenotypic spectrum ranges from isolated mild facial asymmetry to severe bilateral craniofacial microsomia and additional multiple extracranial abnormalities. Intelligence is typically normal. The etiology is poorly understood but is suspected to be heterogeneous and multifactorial. The gene MYT1 (20q13.33) has been implicated in a few rare cases, and chromosomal abnormalities have been associated with some of the congenital malformations associated with this condition. The condition usually occurs sporadically, but autosomal dominant inheritance has been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4836391000052114 okuloaurikulovertebralt spektrum sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculo-auriculo-vertebral spectrum	Is a	Dysostosis of bone of skull	true	Inferred relationship	Some
Oculo-auriculo-vertebral spectrum	Is a	Hemifacial microsomia	true	Inferred relationship	Some
Oculo-auriculo-vertebral spectrum	Finding site	Bone structure of cranium	true	Inferred relationship	Some	1
Oculo-auriculo-vertebral spectrum	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Oculo-auriculo-vertebral spectrum	Occurrence	Congenital	true	Inferred relationship	Some	1
Oculo-auriculo-vertebral spectrum	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Oculo-auriculo-vertebral spectrum	Finding site	Bone structure of face	true	Inferred relationship	Some	2
Oculo-auriculo-vertebral spectrum	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Oculo-auriculo-vertebral spectrum	Occurrence	Congenital	true	Inferred relationship	Some	2
Oculo-auriculo-vertebral spectrum	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Oculo-auriculo-vertebral spectrum	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Oculo-auriculo-vertebral spectrum	Is a	Congenital anomaly of spine	true	Inferred relationship	Some
Oculo-auriculo-vertebral spectrum	Is a	Disorder of vertebral column (disorder)	true	Inferred relationship	Some
Oculo-auriculo-vertebral spectrum	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Oculo-auriculo-vertebral spectrum	Finding site	Structure of vertebral column (body structure)	true	Inferred relationship	Some	3
Oculo-auriculo-vertebral spectrum	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Oculo-auriculo-vertebral spectrum	Occurrence	Congenital	true	Inferred relationship	Some	3

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
4213511010	Oculo-auriculo-vertebral spectrum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4213512015	Oculoauriculovertebral spectrum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4213513013	Oculo-auriculo-vertebral spectrum (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4213514019	OAV (oculo-auriculo-vertebral) spectrum	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4213637017	A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. The phenotypic spectrum ranges from isolated mild facial asymmetry to severe bilateral craniofacial microsomia and additional multiple extracranial abnormalities. Intelligence is typically normal. The aetiology is poorly understood but is suspected to be heterogeneous and multifactorial. The gene MYT1 (20q13.33) has been implicated in a few rare cases, and chromosomal abnormalities have been associated with some of the congenital malformations associated with this condition. The condition usually occurs sporadically, but autosomal dominant inheritance has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4213638010	A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. The phenotypic spectrum ranges from isolated mild facial asymmetry to severe bilateral craniofacial microsomia and additional multiple extracranial abnormalities. Intelligence is typically normal. The etiology is poorly understood but is suspected to be heterogeneous and multifactorial. The gene MYT1 (20q13.33) has been implicated in a few rare cases, and chromosomal abnormalities have been associated with some of the congenital malformations associated with this condition. The condition usually occurs sporadically, but autosomal dominant inheritance has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4836391000052114	okuloaurikulovertebralt spektrum	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)