783555001: Hypotrichosis and deafness 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\Disorder of hair growth\Hypotrichosis (disorder)\Hypotrichosis and deafness syndrome

\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\Hypotrichosis (disorder)\Hypotrichosis and deafness syndrome

\constatation à propos de la structure d'un membre\constatation à propos d'un ongle\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\constatation à propos de la structure d'un membre\constatation à propos d'un ongle\Disorder of nail (disorder)\onychodystrophie\Hypotrichosis and deafness syndrome
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\onychodystrophie\Hypotrichosis and deafness syndrome

\constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair growth\Hypotrichosis (disorder)\Hypotrichosis and 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 growth\Hypotrichosis (disorder)\Hypotrichosis and 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 growth\Hypotrichosis (disorder)\Hypotrichosis and deafness syndrome

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

\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Hypotrichosis and deafness syndrome
\constatation fonctionnelle\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Hypotrichosis and deafness syndrome

\Integumentary system finding\constatation à propos d'un ongle\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\Integumentary system finding\constatation à propos d'un ongle\Disorder of nail (disorder)\onychodystrophie\Hypotrichosis and deafness syndrome
\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Hypotrichosis and deafness syndrome
\Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Hypotrichosis and 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 growth\Hypotrichosis (disorder)\Hypotrichosis and deafness syndrome
\Integumentary system finding\troubles tégumentaires\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\Integumentary system finding\troubles tégumentaires\Disorder of nail (disorder)\onychodystrophie\Hypotrichosis and deafness syndrome
\Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair growth\Hypotrichosis (disorder)\Hypotrichosis and deafness syndrome
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\Hypotrichosis (disorder)\Hypotrichosis and deafness syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Hypotrichosis and deafness syndrome

\Disease\Genetic disease\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Hypotrichosis and deafness syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Hypotrichosis and deafness syndrome
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hypotrichosis and deafness syndrome
\Disease\affection dégénérative\onychodystrophie\Hypotrichosis and deafness syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Hypotrichosis and deafness syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Hypotrichosis and deafness syndrome
\Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Hypotrichosis and deafness syndrome
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Hypotrichosis and deafness syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Hypotrichosis and deafness syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Hypotrichosis and 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 growth\Hypotrichosis (disorder)\Hypotrichosis and deafness syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of nail (disorder)\onychodystrophie\Hypotrichosis and deafness syndrome
\Disease\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Hypotrichosis and deafness syndrome
\Disease\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\onychodystrophie\Hypotrichosis and 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 growth\Hypotrichosis (disorder)\Hypotrichosis and deafness syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3759333015 Hypotrichosis and deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3759334014 Hypotrichosis and deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3759335010 A syndromic genetic deafness with characteristics of erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated. 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
Hypotrichosis and deafness syndrome	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hypotrichosis and deafness syndrome	est un(e) (attribut)	Hypotrichosis (disorder)	true	Inferred relationship	Some
Hypotrichosis and deafness syndrome	morphologie associée (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some	1
Hypotrichosis and deafness syndrome	est un(e) (attribut)	Developmental and/or congenital abnormality of nail (disorder)	false	Inferred relationship	Some
Hypotrichosis and deafness syndrome	localisation d'une constatation (attribut)	Nail unit structure	true	Inferred relationship	Some	1
Hypotrichosis and deafness syndrome	est un(e) (attribut)	Erythrokeratoderma	true	Inferred relationship	Some
Hypotrichosis and deafness syndrome	est un(e) (attribut)	Auditory system hereditary disorder	true	Inferred relationship	Some
Hypotrichosis and deafness syndrome	est un(e) (attribut)	Sensorineural hearing loss	true	Inferred relationship	Some
Hypotrichosis and deafness syndrome	est un(e) (attribut)	kératose	false	Inferred relationship	Some
Hypotrichosis and deafness syndrome	est un(e) (attribut)	Genetic disorder of nail (disorder)	true	Inferred relationship	Some
Hypotrichosis and deafness syndrome	localisation d'une constatation (attribut)	Hair structure (body structure)	true	Inferred relationship	Some	2
Hypotrichosis and deafness syndrome	localisation d'une constatation (attribut)	structure du système auditif	true	Inferred relationship	Some	4
Hypotrichosis and deafness syndrome	interprète (attribut)	Keratinization, function (observable entity)	true	Inferred relationship	Some	3
Hypotrichosis and deafness syndrome	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	3
Hypotrichosis and deafness syndrome	interprète (attribut)	Hearing, function (observable entity)	true	Inferred relationship	Some	5
Hypotrichosis and deafness syndrome	morphologie associée (attribut)	modification de la croissance	true	Inferred relationship	Some	2
Hypotrichosis and deafness syndrome	est un(e) (attribut)	onychodystrophie	true	Inferred relationship	Some
Hypotrichosis and deafness syndrome	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3759333015	Hypotrichosis and deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759334014	Hypotrichosis and deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759335010	A syndromic genetic deafness with characteristics of erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core