763616002: Velofacioskeletal syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Velofacioskeletal syndrome

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Velofacioskeletal syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Velofacioskeletal syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Velofacioskeletal syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Velofacioskeletal syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Velofacioskeletal syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Velofacioskeletal syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Velofacioskeletal syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Velofacioskeletal syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Velofacioskeletal syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Velofacioskeletal syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Velofacioskeletal syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Velofacioskeletal syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Velofacioskeletal 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\Velofacioskeletal syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Velofacioskeletal syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Velofacioskeletal syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Velofacioskeletal syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Velofacioskeletal syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Velofacioskeletal syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Velofacioskeletal syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Velofacioskeletal syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Velofacioskeletal syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Velofacioskeletal syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Velofacioskeletal syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Velofacioskeletal syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Velofacioskeletal syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3643034019 Velofacioskeletal syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3643035018 Velofacioskeletal syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3643036017 Velo-facial-skeletal syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Velofacioskeletal syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Velofacioskeletal syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Velofacioskeletal syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Velofacioskeletal syndrome	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Velofacioskeletal syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Velofacioskeletal syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Velofacioskeletal syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Velofacioskeletal syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Velofacioskeletal syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	2
Velofacioskeletal syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Velofacioskeletal syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Velofacioskeletal syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Velofacioskeletal syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Velofacioskeletal syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Velofacioskeletal syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Velofacioskeletal syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Velofacioskeletal syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Velofacioskeletal syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	3

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
3643034019	Velofacioskeletal syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3643035018	Velofacioskeletal syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3643036017	Velo-facial-skeletal syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module