733097003: Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin finding\...
• \Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\...
• \Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Renal impairment\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Renal impairment\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Renal impairment\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Renal impairment\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Renal impairment\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Impaired urinary system function\Renal impairment\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Renal impairment\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Renal impairment\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Renal impairment\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Renal impairment\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Renal impairment\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment 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\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Functional finding\Impaired urinary system function\Renal impairment\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Functional finding\Finding of renal function\Renal impairment\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Functional finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Functional finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Integumentary system finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Renal impairment\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Renal impairment\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Renal impairment\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498747011	Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3498748018	Passwell Goodman Siprkowski syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3498749014	Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3499976012	Syndrome with characteristics of nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.	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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