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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Hair finding\Disorder of hair\...
• \Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Alopecia (disorder)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Nail finding\Disorder of nail\...
• \Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Finding of limb structure (finding)\Nail finding\Disorder of nail\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Finding of limb structure (finding)\Nail finding\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Disorder of nail\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \General finding of soft tissue\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \General finding of soft tissue\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Integumentary system finding\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Integumentary system finding\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Genetic disease\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of limb\Disorder of digit\Disorder of nail\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of limb\Disorder of digit\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail (disorder)\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
• \Disease\Developmental disorder (disorder)\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome

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
5402306015	A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402307012	A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterised by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhoea and failure to thrive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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	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	Only initial character 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
5402306015	A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402307012	A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterised by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhoea and failure to thrive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3408371001000119	Immundefekt, kombinierter schwerer, durch FOXN1-Defizienz	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3408371001000119	Immundefekt, kombinierter schwerer, durch FOXN1-Defizienz	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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