722002002: Intellectual disability, balding, patella luxation, acromicria 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\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Alopecia\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Intellectual disability, balding, patella luxation, acromicria syndrome
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \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\Intellectual disability, balding, patella luxation, acromicria syndrome
• \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\Intellectual disability, balding, patella luxation, acromicria syndrome
• \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\Intellectual disability, balding, patella luxation, acromicria 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\Intellectual disability, balding, patella luxation, acromicria 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\Intellectual disability, balding, patella luxation, acromicria 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\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Intellectual disability, balding, patella luxation, acromicria syndrome
• \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\Intellectual disability, balding, patella luxation, acromicria syndrome
• \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\Intellectual disability, balding, patella luxation, acromicria syndrome
• \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\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Intellectual disability, balding, patella luxation, acromicria syndrome
• \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\Intellectual disability, balding, patella luxation, acromicria syndrome
• \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\Intellectual disability, balding, patella luxation, acromicria syndrome
• \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\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Intellectual disability, balding, patella luxation, acromicria 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\Intellectual disability, balding, patella luxation, acromicria 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\Intellectual disability, balding, patella luxation, acromicria 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\Intellectual disability, balding, patella luxation, acromicria 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\Intellectual disability, balding, patella luxation, acromicria 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\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \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\Intellectual disability, balding, patella luxation, acromicria syndrome
• \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\Intellectual disability, balding, patella luxation, acromicria syndrome
• \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\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability, balding, patella luxation, acromicria 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\Intellectual disability, balding, patella luxation, acromicria 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\Intellectual disability, balding, patella luxation, acromicria 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\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Intellectual disability, balding, patella luxation, acromicria syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3330089012	Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330090015	Intellectual disability, balding, patella luxation, acromicria syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3330091016	Scholte Begeer-van Essen syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3330092011	Scholte syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3330093018	This syndrome has characteristics of severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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