771515001: syndrome de dysmorphie faciale-déficit immunitaire-livedo-petite taille (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Vascular disease of the skin\livedo réticulaire\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Vascular disease of the skin\livedo réticulaire\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \constatation générale à propos des tissus mous\Blood vessel finding\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \constatation générale à propos des tissus mous\Blood vessel finding\Disorder of blood vessel (disorder)\Vascular disease of the skin\livedo réticulaire\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Vascular disease of the skin\livedo réticulaire\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\Disorder of blood vessel (disorder)\Vascular disease of the skin\livedo réticulaire\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \constatation à propos d'une région de la tête et du cou\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
• \affection de la tête\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
• \affection de la tête\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
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Vascular disease of the skin\livedo réticulaire\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Vascular disease of the skin\livedo réticulaire\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\Vascular disease of the skin\livedo réticulaire\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \constatation cardiovasculaire\Blood vessel finding\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \constatation cardiovasculaire\Blood vessel finding\Disorder of blood vessel (disorder)\Vascular disease of the skin\livedo réticulaire\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of immune system\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Cardiovascular system hereditary disorder\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\trouble de la fonction immunitaire\Hereditary disorder of immune system\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Combined immunodeficiency disease\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Cardiovascular system hereditary disorder\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Vascular disease of the skin\livedo réticulaire\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\Vascular disease of the skin\livedo réticulaire\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\affection de la tête\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\affection de la tête\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\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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 (disorder)\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\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Vascular disease of the skin\livedo réticulaire\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Congenital vascular disorder (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 réticulaire\Congenital livedo reticularis\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
• \Disease\trouble du développement\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\trouble du développement\anomalie staturale\insuffisance staturale\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
770851000241119	syndrome de dysmorphie faciale-déficit immunitaire-livedo-petite taille (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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 Common French translation module (core metadata concept)
995151000172113	syndrome FILS (facial dysmorphism-immunodeficiency-livedo-short stature)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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