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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Vascular disease of the skin\Livedo reticularis\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\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 (disorder)\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 (disorder)\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)\Disorder of skin (disorder)\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 (disorder)\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 (disorder)\Vascular disease of the skin\Livedo reticularis\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\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 (disorder)\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 (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 (disorder)\Congenital vascular disorder\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Cardiovascular finding\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\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 (disorder)\Congenital vascular disorder\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Cardiovascular finding\Blood vessel finding\Disorder of blood vessel (disorder)\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 (disorder)\Hereditary disorder of the integument (disorder)\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\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 (disorder)\Hereditary disorder of immune system\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\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 (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 (disorder)\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 (disorder)\Vascular disease of the skin\Livedo reticularis\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\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 (disorder)\Congenital vascular disorder\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Vascular disease of the skin\Livedo reticularis\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Developmental disorder (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 (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3706580018	FILS syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706582014	Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706583016	Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780948015	FILS (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706584010	A rare genetic disease with characteristics of facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naive T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4. Patients do not exhibit increased susceptibility to cancer. There is evidence the disease is caused by homozygous mutation in the POLE gene on chromosome 12q24.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706580018	FILS syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706581019	FILS (facial dysmorphism, immunodeficiency, livedo, short stature ) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706582014	Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706583016	Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780948015	FILS (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706584010	A rare genetic disease with characteristics of facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naive T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4. Patients do not exhibit increased susceptibility to cancer. There is evidence the disease is caused by homozygous mutation in the POLE gene on chromosome 12q24.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3413361001000118	Gesichtsdysmorphie-Immundefekt-Livedo-Kleinwuchs-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
887421000172112	syndrome de dysmorphie faciale-déficit immunitaire-livedo-petite taille	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
995151000172113	syndrome FILS (facial dysmorphism-immunodeficiency-livedo-short stature)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
887421000172112	syndrome de dysmorphie faciale-déficit immunitaire-livedo-petite taille	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
995151000172113	syndrome FILS (facial dysmorphism-immunodeficiency-livedo-short stature)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3413361001000118	Gesichtsdysmorphie-Immundefekt-Livedo-Kleinwuchs-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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