205418005: Goldenhar syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head region\Finding of face\Facial appearance finding\Finding of proportion of face\Facial asymmetry\Congenital facial asymmetry\Goldenhar syndrome
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of mandible\Asymmetry of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Disorder of mandible\Asymmetry of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Finding of head region\Finding of face\Disorder of face\Facial asymmetry\Congenital facial asymmetry\Goldenhar syndrome
\Finding of head region\Disorder of jaw\Asymmetry of jaw\Asymmetry of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Finding of head region\Disorder of jaw\Asymmetry of jaw\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Finding of head region\Disorder of jaw\Disorder of mandible\Asymmetry of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Finding of head region\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Asymmetry of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disorder of head\Disorder of face\Facial asymmetry\Congenital facial asymmetry\Goldenhar syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Goldenhar syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disorder of head\Disorder of jaw\Asymmetry of jaw\Asymmetry of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disorder of head\Disorder of jaw\Asymmetry of jaw\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disorder of head\Disorder of jaw\Disorder of mandible\Asymmetry of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disorder of head\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Goldenhar syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Goldenhar syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Goldenhar syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Goldenhar syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Asymmetry of jaw\Asymmetry of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Asymmetry of jaw\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\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\Craniofacial microsomia\Goldenhar syndrome
\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 face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\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 face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Asymmetry of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Goldenhar syndrome
\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 face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\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 face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Facial asymmetry\Congenital facial asymmetry\Goldenhar syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Asymmetry of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of head\Disorder of face\Facial asymmetry\Congenital facial asymmetry\Goldenhar syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Goldenhar syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of head\Disorder of jaw\Asymmetry of jaw\Asymmetry of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of head\Disorder of jaw\Asymmetry of jaw\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of mandible\Asymmetry of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Congenital disease\Congenital facial asymmetry\Goldenhar syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Goldenhar syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Goldenhar syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Goldenhar syndrome
\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 face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\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 face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Goldenhar syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Goldenhar syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Goldenhar syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Goldenhar syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Goldenhar syndrome
\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 face bones\Congenital anomaly of mandible\Congenital mandibular asymmetry\Goldenhar syndrome
\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 face bones\Congenital asymmetry of jaw\Congenital mandibular asymmetry\Goldenhar syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

314977018 Goldenhar syndrome en Synonym Active Case sensitive SNOMED CT core

314979015 Oculoauricular vertebral dysplasia en Synonym Active Case insensitive SNOMED CT core

590780015 Goldenhar syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Goldenhar syndrome	Is a	Craniofacial microsomia	true	Inferred relationship	Some
Goldenhar syndrome	Is a	Congenital mandibular asymmetry	true	Inferred relationship	Some
Goldenhar syndrome	Finding site	Face structure	false	Inferred relationship	Some	3
Goldenhar syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Goldenhar syndrome	Is a	Multisystem disorder	false	Inferred relationship	Some
Goldenhar syndrome	Is a	Multisystem disorder G-H	false	Inferred relationship	Some
Goldenhar syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Goldenhar syndrome	Is a	Congenital anomaly of mandible	false	Inferred relationship	Some
Goldenhar syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Goldenhar syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Goldenhar syndrome	Is a	Congenital facial asymmetry	true	Inferred relationship	Some
Goldenhar syndrome	Interprets	Facial appearance	true	Inferred relationship	Some	2
Goldenhar syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Goldenhar syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Goldenhar syndrome	Finding site	Bone structure of mandible	true	Inferred relationship	Some	1
Goldenhar syndrome	Pathological process	Pathological developmental process	true	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