720983002: Amaurosis hypertrichosis 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\hypertrichose\Congenital hypertrichosis (disorder)\Amaurosis hypertrichosis syndrome (disorder)

\Congenital anomaly of hair\Congenital hypertrichosis (disorder)\Amaurosis hypertrichosis syndrome (disorder)

\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\hypertrichose\Congenital hypertrichosis (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital hypertrichosis (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis (disorder)\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis syndrome (disorder)

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

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)

\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)

\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis (disorder)\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis syndrome (disorder)
\Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Congenital hypertrichosis (disorder)\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis (disorder)\Amaurosis hypertrichosis syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Amaurosis hypertrichosis syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Amaurosis hypertrichosis syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Amaurosis hypertrichosis syndrome (disorder)
\Disease\affection dégénérative\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Amaurosis hypertrichosis syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Amaurosis hypertrichosis syndrome (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis (disorder)\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis 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)\Amaurosis hypertrichosis syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Amaurosis hypertrichosis syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Amaurosis hypertrichosis syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis (disorder)\Amaurosis hypertrichosis 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

3322774010 Amaurosis hypertrichosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3322775011 Amaurosis hypertrichosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3322776012 Syndrome with characteristics of severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophrys and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents. 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
Amaurosis hypertrichosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Amaurosis hypertrichosis syndrome (disorder)	localisation d'une constatation (attribut)	Hair structure (body structure)	true	Inferred relationship	Some	2
Amaurosis hypertrichosis syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Amaurosis hypertrichosis syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Amaurosis hypertrichosis syndrome (disorder)	est un(e) (attribut)	Congenital anomaly of retina (disorder)	true	Inferred relationship	Some
Amaurosis hypertrichosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Amaurosis hypertrichosis syndrome (disorder)	localisation d'une constatation (attribut)	structure de la rétine	true	Inferred relationship	Some	1
Amaurosis hypertrichosis syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some	2
Amaurosis hypertrichosis syndrome (disorder)	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	true	Inferred relationship	Some	1
Amaurosis hypertrichosis syndrome (disorder)	morphologie associée (attribut)	modification de la croissance	false	Inferred relationship	Some	3
Amaurosis hypertrichosis syndrome (disorder)	morphologie associée (attribut)	modification de la croissance	true	Inferred relationship	Some	2
Amaurosis hypertrichosis syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Amaurosis hypertrichosis syndrome (disorder)	est un(e) (attribut)	Hereditary retinal dystrophy	true	Inferred relationship	Some
Amaurosis hypertrichosis syndrome (disorder)	est un(e) (attribut)	Congenital hypertrichosis (disorder)	true	Inferred relationship	Some
Amaurosis hypertrichosis syndrome (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Amaurosis hypertrichosis syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of the integument	true	Inferred relationship	Some
Amaurosis hypertrichosis syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some
Amaurosis hypertrichosis syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Amaurosis hypertrichosis syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	4
Amaurosis hypertrichosis syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	3
Amaurosis hypertrichosis syndrome (disorder)	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some	3
Amaurosis hypertrichosis syndrome (disorder)	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	false	Inferred relationship	Some	4
Amaurosis hypertrichosis syndrome (disorder)	localisation d'une constatation (attribut)	structure de la rétine	false	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3322774010	Amaurosis hypertrichosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322775011	Amaurosis hypertrichosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322776012	Syndrome with characteristics of severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophrys and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core