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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3429800010 Patterson Stevenson Fontaine syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3429801014 Patterson Stevenson Fontaine syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3429802019 Split foot deformity with mandibulofacial dysostosis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3429800010	Patterson Stevenson Fontaine syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3429801014	Patterson Stevenson Fontaine syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3429802019	Split foot deformity with mandibulofacial dysostosis syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module