67817003: Pili torti-deafness syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\Deformity (finding)\anomalie morphologique congénitale\Congenital deformity of soft tissue\pili torti\Pili torti-deafness syndrome

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

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

\Disorder of hair shaft\pili torti\Pili torti-deafness syndrome

\Congenital anomaly of hair\pili torti\Pili torti-deafness syndrome

\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair shaft\pili torti\Pili torti-deafness syndrome
\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\pili torti\Pili torti-deafness syndrome
\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\pili torti\Pili torti-deafness syndrome

\constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair shaft\pili torti\Pili torti-deafness syndrome
\constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\pili torti\Pili torti-deafness syndrome
\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 shaft\pili torti\Pili torti-deafness syndrome
\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\pili torti\Pili torti-deafness syndrome
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\pili torti\Pili torti-deafness syndrome
\constatation générale à propos des tissus mous\Disorder of soft tissue\Congenital deformity of soft tissue\pili torti\Pili torti-deafness syndrome
\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 shaft\pili torti\Pili torti-deafness syndrome
\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\pili torti\Pili torti-deafness syndrome
\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\pili torti\Pili torti-deafness syndrome

\constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Pili torti-deafness syndrome
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Pili torti-deafness syndrome
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Pili torti-deafness syndrome
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Pili torti-deafness syndrome
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Pili torti-deafness syndrome

\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\...

\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Pili torti-deafness syndrome

\perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Pili torti-deafness syndrome

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Pili torti-deafness syndrome
\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 shaft\pili torti\Pili torti-deafness syndrome
\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\pili torti\Pili torti-deafness syndrome
\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\pili torti\Pili torti-deafness syndrome
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\pili torti\Pili torti-deafness syndrome
\Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair shaft\pili torti\Pili torti-deafness syndrome
\Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\pili torti\Pili torti-deafness syndrome
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair shaft\pili torti\Pili torti-deafness syndrome
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\pili torti\Pili torti-deafness syndrome
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\pili torti\Pili torti-deafness syndrome

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Pili torti-deafness syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Pili torti-deafness syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Pili torti-deafness syndrome
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pili torti-deafness syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Pili torti-deafness syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Pili torti-deafness syndrome
\Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Pili torti-deafness syndrome
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Pili torti-deafness syndrome
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Pili torti-deafness syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Pili torti-deafness syndrome
\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 shaft\pili torti\Pili torti-deafness syndrome
\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\pili torti\Pili torti-deafness syndrome
\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\pili torti\Pili torti-deafness syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\pili torti\Pili torti-deafness syndrome
\Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of soft tissue\pili torti\Pili torti-deafness syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\pili torti\Pili torti-deafness syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Pili torti-deafness syndrome
\Disease\Disorder of soft tissue\Congenital deformity of soft tissue\pili torti\Pili torti-deafness syndrome
\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 shaft\pili torti\Pili torti-deafness syndrome
\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\pili torti\Pili torti-deafness syndrome
\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\pili torti\Pili torti-deafness syndrome
\Disease\trouble du développement\Developmental hereditary disorder\Pili torti-deafness syndrome
\Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of soft tissue\pili torti\Pili torti-deafness syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\pili torti\Pili torti-deafness syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pili torti-deafness syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Pili torti-deafness syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Pili torti-deafness syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Pili torti-deafness syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	4
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	Hair shaft structure	true	Inferred relationship	Some	4
Pili torti-deafness syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Pili torti-deafness syndrome	morphologie associée (attribut)	Flattening deformity	true	Inferred relationship	Some	4
Pili torti-deafness syndrome	est un(e) (attribut)	Congenital sensorineural hearing loss (disorder)	true	Inferred relationship	Some
Pili torti-deafness syndrome	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Pili torti-deafness syndrome	interprète (attribut)	Hearing, function (observable entity)	true	Inferred relationship	Some	2
Pili torti-deafness syndrome	a pour interprétation (attribut)	altéré	true	Inferred relationship	Some	2
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	structure du système auditif	true	Inferred relationship	Some	3
Pili torti-deafness syndrome	est un(e) (attribut)	Multisystem disorder (disorder)	false	Inferred relationship	Some
Pili torti-deafness syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	est un(e) (attribut)	Disorder of nervous system (disorder)	false	Inferred relationship	Some
Pili torti-deafness syndrome	est un(e) (attribut)	Congenital anomaly of head	false	Inferred relationship	Some
Pili torti-deafness syndrome	est un(e) (attribut)	affection du système auditif	false	Inferred relationship	Some
Pili torti-deafness syndrome	est un(e) (attribut)	Disorder of brain (disorder)	false	Inferred relationship	Some
Pili torti-deafness syndrome	est un(e) (attribut)	Multisystem disorder A-B (navigational concept)	false	Inferred relationship	Some
Pili torti-deafness syndrome	est un(e) (attribut)	pili torti	true	Inferred relationship	Some
Pili torti-deafness syndrome	est un(e) (attribut)	anomalie congénitale de l'ongle (trouble)	false	Inferred relationship	Some
Pili torti-deafness syndrome	est un(e) (attribut)	Disorder of skin AND/OR subcutaneous tissue of head (disorder)	false	Inferred relationship	Some
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	Auditory pathway structure (body structure)	false	Inferred relationship	Some	1
Pili torti-deafness syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	4
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some	4
Pili torti-deafness syndrome	est un(e) (attribut)	lésion neurologique	false	Inferred relationship	Some
Pili torti-deafness syndrome	est un(e) (attribut)	constatation à propos d'une lésion	false	Inferred relationship	Some
Pili torti-deafness syndrome	est un(e) (attribut)	Auditory system hereditary disorder	true	Inferred relationship	Some
Pili torti-deafness syndrome	est un(e) (attribut)	Hereditary disorder of the integument	true	Inferred relationship	Some
Pili torti-deafness syndrome	est un(e) (attribut)	Sensorineural hearing loss	false	Inferred relationship	Some
Pili torti-deafness syndrome	est un(e) (attribut)	Disorder of inner ear	false	Inferred relationship	Some
Pili torti-deafness syndrome	interprète (attribut)	capacité d'entendre	false	Inferred relationship	Some
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	structure de l'oreille interne (structure corporelle)	false	Inferred relationship	Some
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some	1
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some	1
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some	1
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	Hair structure (body structure)	true	Inferred relationship	Some	1
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	structure du système auditif	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	interprète (attribut)	Hearing, function (observable entity)	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	est un(e) (attribut)	Congenital hearing disorder	false	Inferred relationship	Some
Pili torti-deafness syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Pili torti-deafness syndrome	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	interprète (attribut)	entité observable fonctionnelle	false	Inferred relationship	Some
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	Auditory pathway structure	false	Inferred relationship	Some	1
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	Hair structure	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	localisation d'une constatation (attribut)	Nail structure	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	morphologie associée (attribut)	atrophie (anomalie morphologique)	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some
Pili torti-deafness syndrome	morphologie associée (attribut)	Tortuosity	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

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

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
112647012	Pili torti-deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
112648019	Bjornstad's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
122881000077117	syndrome de surdité-pili torti	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
395131000077118	syndrome de surdité-pili torti (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
807583018	Pili torti-deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core