720986005: Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin finding\...
• \Finding of sweating\Ectodermal dysplasia with sweating defect\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disorder of skin\Chronic disease of skin\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Finding of limb structure\Edema of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Finding of limb structure\Disorder of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Oedema\Edema of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Oedema\Disorder characterised by oedema\Lymphoedema\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \General finding of soft tissue\Skin finding\Finding of sweating\Ectodermal dysplasia with sweating defect\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Chronic disease of skin\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Functional finding\Finding of sweating\Ectodermal dysplasia with sweating defect\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Integumentary system finding\Skin finding\Finding of sweating\Ectodermal dysplasia with sweating defect\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Chronic disease of skin\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteopetrosis\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Osteopetrosis\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary lymphoedema\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder of immune function\Chronic disease of immune function\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteopetrosis\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Osteopetrosis\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder characterised by oedema\Lymphoedema\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Chronic disease\Chronic disease of immune function\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Chronic disease\Chronic disease of skin\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Developmental disorder\Primary lymphoedema\Hereditary lymphoedema\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary lymphoedema\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect\Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3322786013	Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3322787016	Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322788014	Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322789018	OL-EDA-ID (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3322790010	OL-EDA-ID (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3322791014	This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. It has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti. The first two reported children died before three years of age from multiple infections with Gram-positive cocci, Gram-negative bacilli, mycobacteria, and fungi. The syndrome is classified as a X-linked osteopetrosis and is caused by mutations in the IKBKG (NEMO) gene (Xq28).	en	Definition	Active	Case sensitive	SNOMED CT core
3322792019	This syndrome is characterised by severe immunodeficiency, osteopetrosis, lymphoedema and anhidrotic ectodermal dysplasia. It has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti. The first two reported children died before three years of age from multiple infections with Gram-positive cocci, Gram-negative bacilli, mycobacteria, and fungi. The syndrome is classified as a X-linked osteopetrosis and is caused by mutations in the IKBKG (NEMO) gene (Xq28).	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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