771515001: Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Vascular disease of the skin\Livedo reticularis\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Vascular disease of the skin\Livedo reticularis\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel\Congenital vascular disorder\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel\Vascular disease of the skin\Livedo reticularis\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Livedo reticularis\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel\Congenital vascular disorder\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel\Vascular disease of the skin\Livedo reticularis\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature 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\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Livedo reticularis\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Vascular disease of the skin\Livedo reticularis\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome

\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Disorder of blood vessel\Congenital vascular disorder\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Disorder of blood vessel\Vascular disease of the skin\Livedo reticularis\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Cardiovascular finding\Blood vessel finding\Disorder of blood vessel\Congenital vascular disorder\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Cardiovascular finding\Blood vessel finding\Disorder of blood vessel\Vascular disease of the skin\Livedo reticularis\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Disorder of immune function\Hereditary disorder of immune system\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Livedo reticularis\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel\Congenital vascular disorder\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel\Vascular disease of the skin\Livedo reticularis\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Congenital disease\Congenital immunodeficiency disease\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Livedo reticularis\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Disorder of soft tissue\Disorder of blood vessel\Congenital vascular disorder\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Disorder of soft tissue\Disorder of blood vessel\Vascular disease of the skin\Livedo reticularis\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3706580018 FILS syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3706582014 Facial dysmorphism, immunodeficiency, livedo, short stature syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3706583016 Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3780948015 FILS (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Finding site	Blood vessel structure of skin	true	Inferred relationship	Existential restriction modifier	2
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Existential restriction modifier
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Is a	Congenital livedo reticularis	true	Inferred relationship	Existential restriction modifier
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Is a	Hereditary disorder of immune system	true	Inferred relationship	Existential restriction modifier
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Is a	Combined immunodeficiency disease	true	Inferred relationship	Existential restriction modifier
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Existential restriction modifier	3
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	4

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
3706580018	FILS syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3706582014	Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3706583016	Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3780948015	FILS (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module