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

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\constatation à propos de la pilosité\trouble de la pilosité\...

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

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

\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)

\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)

\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\pathologie gonadique endocrine (trouble)\hypogonadisme\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)

\constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)

\constatation à propos d'une région de la tête et du cou\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)

\affection de la tête\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)
\affection de la tête\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)

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\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\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\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\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\pathologie gonadique endocrine (trouble)\hypogonadisme\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\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\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\affection de la tête\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\affection de la tête\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\trouble mental\troubles mentaux du développement\Intellectual disability\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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\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\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Congenital disease\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\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\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\alopécie (trouble)\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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\trouble du développement\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\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
\Disease\trouble du développement\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\trouble du développement\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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	survenue (attribut)	congénital	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)	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	survenue (attribut)	congénital	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)	localisation d'une constatation (attribut)	face	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)	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	2
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	morphologie associée (attribut)	Congenital absence	false	Inferred relationship	Some	1
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	localisation d'une constatation (attribut)	Hair structure (body structure)	true	Inferred relationship	Some	1
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	4
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	localisation d'une constatation (attribut)	Gonadal endocrine structure	true	Inferred relationship	Some	3
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	localisation d'une constatation (attribut)	Bone structure of extremity	true	Inferred relationship	Some	4
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	4
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	morphologie associée (attribut)	Absence (morphologic abnormality)	true	Inferred relationship	Some	1
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	est un(e) (attribut)	Congenital alopecia	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	est un(e) (attribut)	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	est un(e) (attribut)	hypogonadisme	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	est un(e) (attribut)	Mental retardation	false	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	est un(e) (attribut)	Skeletal dysplasia	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of the integument	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	est un(e) (attribut)	Reproductive system hereditary disorder	true	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	localisation d'une constatation (attribut)	Gonadal endocrine structure	false	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	5
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	6
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	7
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	7
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	localisation d'une constatation (attribut)	Bone structure of extremity	false	Inferred relationship	Some	7
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	morphologie associée (attribut)	Congenital absence	false	Inferred relationship	Some	5
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some	5
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	6
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	localisation d'une constatation (attribut)	face	false	Inferred relationship	Some	6
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	localisation d'une constatation (attribut)	Gonadal endocrine structure	false	Inferred relationship	Some	1
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some

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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