722002002: Intellectual disability, balding, patella luxation, acromicria 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\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)

\Alopecia\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\...

\Congenital dysplasia of limb (disorder)\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)

\Multiple malformation syndrome with facial-limb defects as major feature\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)

\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 (disorder)
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\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\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\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\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\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\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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)

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\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\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\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\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\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 (disorder)
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\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 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\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\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\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\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\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 (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\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\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\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\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)

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

3330089012 Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330090015 Intellectual disability, balding, patella luxation, acromicria syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330091016 Scholte Begeer-van Essen syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3330092011 Scholte syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

3910711000052119 Scholtes syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Is a	Congenital alopecia	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Is a	Hypogonadism	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Is a	mental retardation	false	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	7
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Finding site	Bone structure of extremity	false	Inferred relationship	Some	7
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	5
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	5
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	6
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	6
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some	1
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	1
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	1
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	4
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	3
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Finding site	Bone structure of extremity	true	Inferred relationship	Some	4
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	4
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Is a	Congenital dysplasia of limb (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330089012	Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330090015	Intellectual disability, balding, patella luxation, acromicria syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330091016	Scholte Begeer-van Essen syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330092011	Scholte syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3910711000052119	Scholtes syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)