720345008: Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \constatation à propos de la pilosité\trouble de la pilosité\...
• \Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \alopécie (trouble)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \constatation à propos de la structure d'un membre\constatation à propos d'un ongle\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \constatation à propos de la structure d'un membre\constatation à propos d'un ongle\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \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)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \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)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \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)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Integumentary system finding\constatation à propos d'un ongle\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Integumentary system finding\constatation à propos d'un ongle\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\anomalie congénitale de l'ongle (trouble)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\Genetic disease\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\anomalie congénitale de l'ongle (trouble)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\anomalie congénitale de l'ongle (trouble)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\anomalie congénitale de l'ongle (trouble)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
• \Disease\trouble du développement\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3322827014	Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3322828016	Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3322829012	Alymphoid cystic thymic dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322830019	Winged helix deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322831015	Pignata Guarino syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3541031015	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3541032010	Congenital alopecia and nail dystrophy with severe functional T-cell immunodeficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3326800013	A rare type of severe combined immunodeficiency (SCID) with missing functional T-cells. The disease affects growth of the hair and nails. Affected individuals have no scalp hair, eyebrows, or eyelashes and the nails are often ridged, pitted, or abnormally curved. The disease results from mutations in the FOXN1 gene which prevents cells from making any functional FOXN1 protein.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start