720979002: Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Alopecia, contracture, dwarfism, intellectual disability 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\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Alopecia, contracture, dwarfism, intellectual disability 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\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Alopecia, contracture, dwarfism, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Alopecia, contracture, dwarfism, intellectual disability syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3322753014	Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3322754015	Alopecia, contracture, dwarfism, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322755019	ACD (alopecia, contracture, dwarfism) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3322756018	ACD (alopecia, contracture, dwarfism) mental retardation syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3322757010	A form of ectodermal dysplasia syndrome with characteristics of short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones, particularly elbows, carpals, metacarpals, and spine, intellectual disability and facial dysmorphism.	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

Back to Start