720499004: syndrome d'aplasie cutanée-myopie (trouble)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\...

\Aplasia of skin\aplasia cutis congenita (trouble)\Aplasia cutis with myopia syndrome (disorder)

\Congenital anomaly of skin\aplasia cutis congenita (trouble)\Aplasia cutis with myopia syndrome (disorder)

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Aplasia of skin\aplasia cutis congenita (trouble)\Aplasia cutis with myopia syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\aplasia cutis congenita (trouble)\Aplasia cutis with myopia 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)\Aplasia of skin\aplasia cutis congenita (trouble)\Aplasia cutis with myopia 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\aplasia cutis congenita (trouble)\Aplasia cutis with myopia syndrome (disorder)

\constatation à propos des yeux ou de la vue\affection du système visuel\...

\Hereditary disorder of the visual system\Aplasia cutis with myopia syndrome (disorder)

\Disorder of vision\Disorder of refraction AND/OR accommodation\trouble de la réfraction\myopie\Severe myopia\Aplasia cutis with myopia syndrome (disorder)

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Aplasia cutis with myopia syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Aplasia of skin\aplasia cutis congenita (trouble)\Aplasia cutis with myopia 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\aplasia cutis congenita (trouble)\Aplasia cutis with myopia syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\aplasia cutis congenita (trouble)\Aplasia cutis with myopia syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Aplasia of skin\aplasia cutis congenita (trouble)\Aplasia cutis with myopia syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\aplasia cutis congenita (trouble)\Aplasia cutis with myopia syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Aplasia cutis with myopia syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Aplasia cutis with myopia syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Aplasia cutis with myopia syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Aplasia cutis with myopia syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Aplasia cutis with myopia syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Aplasia cutis with myopia syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Aplasia cutis with myopia 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)\Aplasia of skin\aplasia cutis congenita (trouble)\Aplasia cutis with myopia 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\aplasia cutis congenita (trouble)\Aplasia cutis with myopia syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\aplasia cutis congenita (trouble)\Aplasia cutis with myopia syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Aplasia cutis with myopia syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of vision\Disorder of refraction AND/OR accommodation\trouble de la réfraction\myopie\Severe myopia\Aplasia cutis with myopia syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Aplasia cutis with myopia syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\aplasia cutis congenita (trouble)\Aplasia cutis with myopia syndrome (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Aplasia of skin\aplasia cutis congenita (trouble)\Aplasia cutis with myopia 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\aplasia cutis congenita (trouble)\Aplasia cutis with myopia syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Aplasia cutis with myopia syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Aplasia cutis with myopia syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\aplasia cutis congenita (trouble)\Aplasia cutis with myopia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aplasia cutis with myopia syndrome (disorder)	localisation d'une constatation (attribut)	Structure of visual system (body structure)	true	Inferred relationship	Some	2
Aplasia cutis with myopia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Aplasia cutis with myopia syndrome (disorder)	localisation d'une constatation (attribut)	Skin part	true	Inferred relationship	Some	1
Aplasia cutis with myopia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Aplasia cutis with myopia syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Aplasia cutis with myopia syndrome (disorder)	morphologie associée (attribut)	Congenital absence	false	Inferred relationship	Some	1
Aplasia cutis with myopia syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Aplasia cutis with myopia syndrome (disorder)	morphologie associée (attribut)	Aplasia	true	Inferred relationship	Some	1
Aplasia cutis with myopia syndrome (disorder)	est un(e) (attribut)	Severe myopia	true	Inferred relationship	Some
Aplasia cutis with myopia syndrome (disorder)	est un(e) (attribut)	aplasia cutis congenita (trouble)	true	Inferred relationship	Some
Aplasia cutis with myopia syndrome (disorder)	est un(e) (attribut)	syndrome de malformations multisystémiques	true	Inferred relationship	Some
Aplasia cutis with myopia syndrome (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Aplasia cutis with myopia syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of the integument	true	Inferred relationship	Some
Aplasia cutis with myopia syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of the visual system	true	Inferred relationship	Some
Aplasia cutis with myopia syndrome (disorder)	localisation d'une constatation (attribut)	Structure of visual system (body structure)	false	Inferred relationship	Some
Aplasia cutis with myopia syndrome (disorder)	morphologie associée (attribut)	Congenital absence	false	Inferred relationship	Some	2
Aplasia cutis with myopia syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Aplasia cutis with myopia syndrome (disorder)	localisation d'une constatation (attribut)	Skin part	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
1017081000172117	syndrome de Gershoni-Baruch-Leibo	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3321035010	Aplasia cutis with myopia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321036011	Aplasia cutis with myopia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321037019	Gershoni Baruch Leibo syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
755511000241110	syndrome d'aplasie cutanée-myopie (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
951891000172115	syndrome d'aplasie cutanée-myopie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3321038012	This syndrome has characteristics of the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core