254025006: Hemifacial microsomia (disorder)

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

\Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Hemifacial microsomia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Hemifacial microsomia (disorder)

\Musculoskeletal finding (finding)\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Hemifacial microsomia (disorder)
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Hemifacial microsomia (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Hemifacial microsomia (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Hemifacial microsomia (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Hemifacial microsomia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Hemifacial microsomia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Hemifacial microsomia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Hemifacial microsomia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Hemifacial microsomia (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Hemifacial microsomia (disorder)
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Hemifacial microsomia (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Hemifacial microsomia (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Hemifacial microsomia (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Hemifacial microsomia (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hemifacial microsomia (disorder)	Is a	Congenital anomaly of face bones	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemifacial microsomia (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemifacial microsomia (disorder)	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemifacial microsomia (disorder)	Finding site	Bone structure of face	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hemifacial microsomia (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hemifacial microsomia (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hemifacial microsomia (disorder)	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hemifacial microsomia (disorder)	Finding site	Bone structure of face	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hemifacial microsomia (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hemifacial microsomia (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hemifacial microsomia (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hemifacial microsomia (disorder)	Finding site	Bone structure of face	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hemifacial microsomia (disorder)	Finding site	Bone structure of face	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hemifacial microsomia (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hemifacial microsomia (disorder)	Is a	Craniofacial microsomia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemifacial microsomia (disorder)	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hemifacial microsomia (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hemifacial microsomia (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hemifacial microsomia (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hemifacial microsomia with radial defect syndrome (disorder)	Is a	True	Hemifacial microsomia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Hemifacial microsomia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
378163012	Hemifacial microsomia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644860017	Hemifacial microsomia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378163012	Hemifacial microsomia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378163012	Hemifacial microsomia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378164018	First AND second branchial arch syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
644860017	Hemifacial microsomia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
644860017	Hemifacial microsomia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5081221000241111	microsomie hémifaciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5081221000241111	microsomie hémifaciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module