726722009: Hemifacial microsomia with radial defect syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oculoauriculovertebral spectrum with radial defects
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of forearm\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects

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

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

\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects

\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oculoauriculovertebral spectrum with radial defects
\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oculoauriculovertebral spectrum with radial defects
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oculoauriculovertebral spectrum with radial defects
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects
\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Musculoskeletal finding\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\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Musculoskeletal finding\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\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Musculoskeletal finding\Musculoskeletal 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\Oculoauriculovertebral spectrum with radial defects
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects

\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\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\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\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\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\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\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\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oculoauriculovertebral spectrum with radial defects
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oculoauriculovertebral spectrum with radial defects
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oculoauriculovertebral spectrum with radial defects
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oculoauriculovertebral spectrum with radial defects
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oculoauriculovertebral spectrum with radial defects
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oculoauriculovertebral spectrum with radial defects
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\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\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oculoauriculovertebral spectrum with radial defects
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oculoauriculovertebral spectrum with radial defects
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oculoauriculovertebral spectrum with radial defects
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oculoauriculovertebral spectrum with radial defects
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\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\Hemifacial microsomia\Oculoauriculovertebral spectrum with radial defects
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Oculoauriculovertebral spectrum with radial defects
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oculoauriculovertebral spectrum with radial defects

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3452172019 Hemifacial microsomia with radial defect syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3452173012 Hemifacial microsomia with radial defect syndrome en Synonym Active Case insensitive SNOMED CT core

3452174018 Moeschler Clarren syndrome en Synonym Active Case sensitive SNOMED CT core

3452175017 Oculoauriculovertebral spectrum with radial defects en Synonym Active Case insensitive SNOMED CT core

3452176016 A rare branchial arches and limb primordia development disorder with characteristics of 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. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculoauriculovertebral spectrum with radial defects	Occurrence	Congenital	true	Inferred relationship	Some	1
Oculoauriculovertebral spectrum with radial defects	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Oculoauriculovertebral spectrum with radial defects	Finding site	Bone structure of face	true	Inferred relationship	Some	1
Oculoauriculovertebral spectrum with radial defects	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Oculoauriculovertebral spectrum with radial defects	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Oculoauriculovertebral spectrum with radial defects	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Oculoauriculovertebral spectrum with radial defects	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Oculoauriculovertebral spectrum with radial defects	Is a	Congenital anomaly of radius	true	Inferred relationship	Some
Oculoauriculovertebral spectrum with radial defects	Is a	Hemifacial microsomia	true	Inferred relationship	Some
Oculoauriculovertebral spectrum with radial defects	Occurrence	Congenital	true	Inferred relationship	Some	2
Oculoauriculovertebral spectrum with radial defects	Finding site	Bone structure of radius	true	Inferred relationship	Some	2
Oculoauriculovertebral spectrum with radial defects	Occurrence	Congenital	false	Inferred relationship	Some	3
Oculoauriculovertebral spectrum with radial defects	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	2
Oculoauriculovertebral spectrum with radial defects	Finding site	Bone structure of face	false	Inferred relationship	Some	2
Oculoauriculovertebral spectrum with radial defects	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Oculoauriculovertebral spectrum with radial defects	Finding site	Bone structure of radius	false	Inferred relationship	Some	3

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3452172019	Hemifacial microsomia with radial defect syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3452173012	Hemifacial microsomia with radial defect syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3452174018	Moeschler Clarren syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3452175017	Oculoauriculovertebral spectrum with radial defects	en	Synonym	Active	Case insensitive	SNOMED CT core
3452176016	A rare branchial arches and limb primordia development disorder with characteristics of 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.	en	Definition	Active	Case sensitive	SNOMED CT core