408537003: syndrome de Barber-Say (trouble)

SNOMED CT Concept\constatation clinique\...

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

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

\Disorder of hair growth\hypertrichose\Congenital hypertrichosis (disorder)\Barber-Say syndrome (disorder)

\Congenital anomaly of hair\Congenital hypertrichosis (disorder)\Barber-Say syndrome (disorder)

\affection de la peau (trouble)\Degenerative skin disorder (disorder)\état atrophique de la peau (trouble)\Barber-Say syndrome (disorder)
\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\hypertrichose\Congenital hypertrichosis (disorder)\Barber-Say syndrome (disorder)
\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital hypertrichosis (disorder)\Barber-Say syndrome (disorder)
\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Barber-Say syndrome (disorder)
\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis (disorder)\Barber-Say syndrome (disorder)

\Digestive system finding (finding)\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Microstomia\Barber-Say syndrome (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Microstomia\Barber-Say syndrome (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Microstomia\Barber-Say syndrome (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Congenital anomaly of mouth\Microstomia\Barber-Say syndrome (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Microstomia\Barber-Say syndrome (disorder)

\constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair growth\hypertrichose\Congenital hypertrichosis (disorder)\Barber-Say 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 hypertrichosis (disorder)\Barber-Say syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\état atrophique de la peau (trouble)\Barber-Say syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\hypertrichose\Congenital hypertrichosis (disorder)\Barber-Say 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 hypertrichosis (disorder)\Barber-Say syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Barber-Say 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 hypertrichosis (disorder)\Barber-Say 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)\Degenerative skin disorder (disorder)\état atrophique de la peau (trouble)\Barber-Say 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\Disorder of hair growth\hypertrichose\Congenital hypertrichosis (disorder)\Barber-Say 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 hypertrichosis (disorder)\Barber-Say 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\Genodermatosis\Ectodermal dysplasia\Barber-Say 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 hypertrichosis (disorder)\Barber-Say syndrome (disorder)

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head region\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Microstomia\Barber-Say syndrome (disorder)
\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\Barber-Say syndrome (disorder)

\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Microstomia\Barber-Say syndrome (disorder)
\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Barber-Say syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Barber-Say syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Microstomia\Barber-Say syndrome (disorder)

\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\état atrophique de la peau (trouble)\Barber-Say 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\Disorder of hair growth\hypertrichose\Congenital hypertrichosis (disorder)\Barber-Say 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 hypertrichosis (disorder)\Barber-Say 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\Genodermatosis\Ectodermal dysplasia\Barber-Say 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 hypertrichosis (disorder)\Barber-Say syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Barber-Say syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis (disorder)\Barber-Say syndrome (disorder)
\Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair growth\hypertrichose\Congenital hypertrichosis (disorder)\Barber-Say syndrome (disorder)
\Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Congenital hypertrichosis (disorder)\Barber-Say syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\état atrophique de la peau (trouble)\Barber-Say syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\hypertrichose\Congenital hypertrichosis (disorder)\Barber-Say 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 hypertrichosis (disorder)\Barber-Say syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Barber-Say syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis (disorder)\Barber-Say syndrome (disorder)

\Disease\Genetic disease\Barber-Say syndrome (disorder)
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Barber-Say syndrome (disorder)
\Disease\affection dégénérative\Degenerative skin disorder (disorder)\état atrophique de la peau (trouble)\Barber-Say 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)\Degenerative skin disorder (disorder)\état atrophique de la peau (trouble)\Barber-Say 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\Disorder of hair growth\hypertrichose\Congenital hypertrichosis (disorder)\Barber-Say 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 hypertrichosis (disorder)\Barber-Say 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\Genodermatosis\Ectodermal dysplasia\Barber-Say 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 hypertrichosis (disorder)\Barber-Say syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Barber-Say syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis (disorder)\Barber-Say syndrome (disorder)
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Microstomia\Barber-Say syndrome (disorder)
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Microstomia\Barber-Say syndrome (disorder)
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Congenital anomaly of mouth\Microstomia\Barber-Say syndrome (disorder)
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Microstomia\Barber-Say syndrome (disorder)
\Disease\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Microstomia\Barber-Say 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\Barber-Say 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\Barber-Say syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Microstomia\Barber-Say syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Barber-Say syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Barber-Say 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\Barber-Say syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Microstomia\Barber-Say syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Microstomia\Barber-Say syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Barber-Say syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis (disorder)\Barber-Say syndrome (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\état atrophique de la peau (trouble)\Barber-Say 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\Disorder of hair growth\hypertrichose\Congenital hypertrichosis (disorder)\Barber-Say 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 hypertrichosis (disorder)\Barber-Say 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\Genodermatosis\Ectodermal dysplasia\Barber-Say 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 hypertrichosis (disorder)\Barber-Say 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\Barber-Say syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Barber-Say 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\Barber-Say syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Microstomia\Barber-Say syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Microstomia\Barber-Say syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Barber-Say syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis (disorder)\Barber-Say syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2004. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Barber-Say syndrome (disorder)	morphologie associée (attribut)	modification de la croissance	false	Inferred relationship	Some	2
Barber-Say syndrome (disorder)	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some	2
Barber-Say syndrome (disorder)	est un(e) (attribut)	Ectodermal dysplasia	true	Inferred relationship	Some
Barber-Say syndrome (disorder)	est un(e) (attribut)	Congenital hypertrichosis (disorder)	true	Inferred relationship	Some
Barber-Say syndrome (disorder)	est un(e) (attribut)	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Barber-Say syndrome (disorder)	est un(e) (attribut)	Genetic disease	true	Inferred relationship	Some
Barber-Say syndrome (disorder)	est un(e) (attribut)	Microstomia	true	Inferred relationship	Some
Barber-Say syndrome (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
Barber-Say syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Barber-Say syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Barber-Say syndrome (disorder)	localisation d'une constatation (attribut)	Ectoderm structure	true	Inferred relationship	Some	2
Barber-Say syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Barber-Say syndrome (disorder)	localisation d'une constatation (attribut)	bouche	true	Inferred relationship	Some	3
Barber-Say syndrome (disorder)	morphologie associée (attribut)	Congenital smallness	true	Inferred relationship	Some	3
Barber-Say syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Barber-Say syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	4
Barber-Say syndrome (disorder)	localisation d'une constatation (attribut)	face	true	Inferred relationship	Some	4
Barber-Say syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	4
Barber-Say syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Barber-Say syndrome (disorder)	morphologie associée (attribut)	modification de la croissance	true	Inferred relationship	Some	5
Barber-Say syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	5
Barber-Say syndrome (disorder)	localisation d'une constatation (attribut)	Hair structure (body structure)	true	Inferred relationship	Some	5
Barber-Say syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Barber-Say syndrome (disorder)	est un(e) (attribut)	hypertrichose	false	Inferred relationship	Some
Barber-Say syndrome (disorder)	est un(e) (attribut)	état atrophique de la peau (trouble)	true	Inferred relationship	Some
Barber-Say syndrome (disorder)	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some
Barber-Say syndrome (disorder)	morphologie associée (attribut)	atrophie (anomalie morphologique)	false	Inferred relationship	Some	1
Barber-Say syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Barber-Say syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	1
Barber-Say syndrome (disorder)	morphologie associée (attribut)	atrophie (anomalie morphologique)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
2152368013	Barber-Say syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2160087015	Barber-Say syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
641501000241119	syndrome de Barber-Say (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
869981000172112	syndrome de Barber-Say	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
961261000172117	syndrome d'hypertrichose, atrophie cutanée, ectropion, macrostomie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)