205418005: Goldenhar syndrome (disorder)

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
314977018	Goldenhar syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
314979015	Oculoauricular vertebral dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
590780015	Goldenhar syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Goldenhar syndrome	Is a	Multisystem disorder G-H	false	Inferred relationship	Some
Goldenhar syndrome	Is a	Multisystem disorder	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	Connective tissue hereditary disorder (disorder)	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	Is a	Craniofacial microsomia	false	Inferred relationship	Some
Goldenhar syndrome	Is a	Congenital mandibular asymmetry	true	Inferred relationship	Some
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 (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Goldenhar syndrome	Interprets	Facial appearance	true	Inferred relationship	Some	2
Goldenhar syndrome	Finding site	Face structure	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start