724069009: Patterson Stevenson Fontaine syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Patterson Stevenson Fontaine syndrome

\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\Patterson Stevenson Fontaine syndrome

\Disorder of face\Lesion of face\Patterson Stevenson Fontaine syndrome
\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\Patterson Stevenson Fontaine syndrome
\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Patterson Stevenson Fontaine syndrome
\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Patterson Stevenson Fontaine syndrome

\Disorder of head\Disorder of face\Lesion of face\Patterson Stevenson Fontaine syndrome
\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\Patterson Stevenson Fontaine syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Patterson Stevenson Fontaine syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Patterson Stevenson Fontaine syndrome
\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\Patterson Stevenson Fontaine syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Patterson Stevenson Fontaine syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Patterson Stevenson Fontaine syndrome

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Patterson Stevenson Fontaine syndrome
\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\Patterson Stevenson Fontaine syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Patterson Stevenson Fontaine syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Patterson Stevenson Fontaine syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Patterson Stevenson Fontaine syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Patterson Stevenson Fontaine syndrome
\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\Patterson Stevenson Fontaine syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Patterson Stevenson Fontaine syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Patterson Stevenson Fontaine syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Patterson Stevenson Fontaine syndrome
\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\Patterson Stevenson Fontaine syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Patterson Stevenson Fontaine syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Patterson Stevenson Fontaine syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Patterson Stevenson Fontaine syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Patterson Stevenson Fontaine syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Patterson Stevenson Fontaine syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Patterson Stevenson Fontaine syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Patterson Stevenson Fontaine 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\Patterson Stevenson Fontaine syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Patterson Stevenson Fontaine syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Patterson Stevenson Fontaine syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Patterson Stevenson Fontaine 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\Patterson Stevenson Fontaine syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Patterson Stevenson Fontaine syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Patterson Stevenson Fontaine syndrome
\Disease\Disorder of head\Disorder of face\Lesion of face\Patterson Stevenson Fontaine syndrome
\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\Patterson Stevenson Fontaine syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Patterson Stevenson Fontaine syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Patterson Stevenson Fontaine syndrome
\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\Patterson Stevenson Fontaine syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Patterson Stevenson Fontaine syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Patterson Stevenson Fontaine syndrome
\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\Patterson Stevenson Fontaine syndrome
\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\Patterson Stevenson Fontaine syndrome
\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\Patterson Stevenson Fontaine syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Patterson Stevenson Fontaine syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Patterson Stevenson Fontaine syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Patterson Stevenson Fontaine 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\Patterson Stevenson Fontaine syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Patterson Stevenson Fontaine syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Patterson Stevenson Fontaine 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\Patterson Stevenson Fontaine syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Patterson Stevenson Fontaine syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Patterson Stevenson Fontaine syndrome
\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\Patterson Stevenson Fontaine syndrome
\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\Patterson Stevenson Fontaine syndrome
\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\Patterson Stevenson Fontaine syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Patterson Stevenson Fontaine syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Patterson Stevenson Fontaine syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Patterson Stevenson Fontaine 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\Patterson Stevenson Fontaine syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Patterson Stevenson Fontaine syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Patterson Stevenson Fontaine syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3429800010 Patterson Stevenson Fontaine syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3429801014 Patterson Stevenson Fontaine syndrome en Synonym Active Case sensitive SNOMED CT core

3429802019 Split foot deformity with mandibulofacial dysostosis syndrome en Synonym Active Case insensitive SNOMED CT core

3429803012 A very rare variant of acrofacial dysostosis with characteristics of mandibulofacial dysostosis and limb anomalies. It has been described in less than ten patients. The mandibulofacial dysostosis consists of retrognathism, complete or occult posterior cleft palate and anomalies of the external ears. Limb anomalies consist of split-foot deformity with syndactyly of some toes. The condition is transmitted as an autosomal dominant trait with variable penetrance and expressivity. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Patterson Stevenson Fontaine syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Patterson Stevenson Fontaine syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Patterson Stevenson Fontaine syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Patterson Stevenson Fontaine syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Patterson Stevenson Fontaine syndrome	Finding site	Bone structure of extremity	true	Inferred relationship	Some	1
Patterson Stevenson Fontaine syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Patterson Stevenson Fontaine syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Patterson Stevenson Fontaine syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Patterson Stevenson Fontaine syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Patterson Stevenson Fontaine syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Patterson Stevenson Fontaine syndrome	Is a	Congenital anomaly of face bones	true	Inferred relationship	Some
Patterson Stevenson Fontaine syndrome	Is a	Dysostosis	true	Inferred relationship	Some
Patterson Stevenson Fontaine syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Patterson Stevenson Fontaine syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Patterson Stevenson Fontaine syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Patterson Stevenson Fontaine syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Patterson Stevenson Fontaine syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Patterson Stevenson Fontaine syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Patterson Stevenson Fontaine syndrome	Finding site	Bone structure of face	true	Inferred relationship	Some	2
Patterson Stevenson Fontaine syndrome	Finding site	Bone structure of extremity	false	Inferred relationship	Some	3
Patterson Stevenson Fontaine syndrome	Is a	Lesion of face	true	Inferred relationship	Some

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
3429800010	Patterson Stevenson Fontaine syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3429801014	Patterson Stevenson Fontaine syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3429802019	Split foot deformity with mandibulofacial dysostosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3429803012	A very rare variant of acrofacial dysostosis with characteristics of mandibulofacial dysostosis and limb anomalies. It has been described in less than ten patients. The mandibulofacial dysostosis consists of retrognathism, complete or occult posterior cleft palate and anomalies of the external ears. Limb anomalies consist of split-foot deformity with syndactyly of some toes. The condition is transmitted as an autosomal dominant trait with variable penetrance and expressivity.	en	Definition	Active	Case sensitive	SNOMED CT core