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

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin finding\...
• \Hair finding\Disorder of hair\...
• \Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Alopecia\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Nail finding\Disorder of nail\...
• \Genetic disorder of nail\Alymphoid cystic thymic dysgenesis
• \Developmental abnormality of nail\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Alymphoid cystic thymic dysgenesis
• \Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Finding of limb structure\Nail finding\Disorder of nail\Genetic disorder of nail\Alymphoid cystic thymic dysgenesis
• \Finding of limb structure\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of nail\Genetic disorder of nail\Alymphoid cystic thymic dysgenesis
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \General finding of soft tissue\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Alymphoid cystic thymic dysgenesis
• \General finding of soft tissue\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Alymphoid cystic thymic dysgenesis
• \General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Alymphoid cystic thymic dysgenesis
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Alymphoid cystic thymic dysgenesis
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Alymphoid cystic thymic dysgenesis
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Integumentary system finding\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Alymphoid cystic thymic dysgenesis
• \Integumentary system finding\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Alymphoid cystic thymic dysgenesis
• \Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Disease\Genetic disease\Genetic disorder of nail\Alymphoid cystic thymic dysgenesis
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Alymphoid cystic thymic dysgenesis
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Alymphoid cystic thymic dysgenesis
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Alymphoid cystic thymic dysgenesis
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive SCID (severe combined immunodeficiency disease)\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of extremity\Disorder of digit\Disorder of nail\Genetic disorder of nail\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of extremity\Disorder of digit\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Disease\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Disease\Developmental disorder\Developmental hereditary disorder\Alymphoid cystic thymic dysgenesis
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alymphoid cystic thymic dysgenesis
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis
• \Disease\Developmental disorder\Developmental abnormality of nail\Congenital anomaly of nail\Alymphoid cystic thymic dysgenesis

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
3322828016	Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3322829012	Alymphoid cystic thymic dysgenesis	en	Synonym	Active	Case insensitive	SNOMED CT core
3322830019	Winged helix deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3322831015	Pignata Guarino syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3541031015	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
3541032010	Congenital alopecia and nail dystrophy with severe functional T-cell immunodeficiency	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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