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254025006: Hemifacial microsomia (disorder)

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

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

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

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

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

5081221000241111 microsomie hémifaciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hemifacial microsomia	Is a	Congenital anomaly of face bones	true	Inferred relationship	Some
Hemifacial microsomia	Occurrence	Congenital	false	Inferred relationship	Some
Hemifacial microsomia	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Some
Hemifacial microsomia	Finding site	Bone structure of face	true	Inferred relationship	Some	1
Hemifacial microsomia	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Hemifacial microsomia	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Hemifacial microsomia	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Hemifacial microsomia	Finding site	Bone structure of face	false	Inferred relationship	Some	1
Hemifacial microsomia	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Hemifacial microsomia	Occurrence	Congenital	false	Inferred relationship	Some	2
Hemifacial microsomia	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Hemifacial microsomia	Finding site	Bone structure of face	false	Inferred relationship	Some	2
Hemifacial microsomia	Finding site	Bone structure of face	false	Inferred relationship	Some	3
Hemifacial microsomia	Occurrence	Congenital	false	Inferred relationship	Some	3
Hemifacial microsomia	Is a	Craniofacial microsomia	true	Inferred relationship	Some
Hemifacial microsomia	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	3
Hemifacial microsomia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hemifacial microsomia	Occurrence	Congenital	true	Inferred relationship	Some	1
Hemifacial microsomia	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Hemifacial microsomia	Interprets	Facial appearance	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.	Is a	True	Hemifacial microsomia	Inferred relationship	Some
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	False	Hemifacial microsomia	Inferred relationship	Some

Reference Sets

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
5081221000241111	microsomie hémifaciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module