715464002: microcéphalie-microcornée type Seemanova (trouble)

SNOMED CT Concept\constatation clinique\...

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

\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\microcéphalie-microcornée type Seemanova

\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 anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Corneal finding\Disorder of cornea (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of cornea (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\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 anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova

\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 anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\microcéphalie-microcornée type Seemanova
\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova

\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Corneal finding\Disorder of cornea (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of cornea (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\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 anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\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 anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\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 anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\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 anterior segment of eye\Disorder of cornea (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\microcéphalie-microcornée type Seemanova
\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 anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova

\constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\microcéphalie-microcornée type Seemanova

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\microcéphalie-microcornée type Seemanova
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\microcéphalie-microcornée type Seemanova
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\microcéphalie-microcornée type Seemanova
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\microcéphalie-microcornée type Seemanova
\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 anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\microcéphalie-microcornée type Seemanova
\Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\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 anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\microcéphalie-microcornée type Seemanova
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\microcéphalie-microcornée type Seemanova
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\microcéphalie-microcornée type Seemanova
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\Disease\trouble du développement\Developmental hereditary disorder\microcéphalie-microcornée type Seemanova
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\microcéphalie-microcornée type Seemanova
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\microcéphalie-microcornée type Seemanova
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Microcornea\microcéphalie-microcornée type Seemanova

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
microcéphalie-microcornée type Seemanova	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
microcéphalie-microcornée type Seemanova	morphologie associée (attribut)	Congenital smallness	false	Inferred relationship	Some	1
microcéphalie-microcornée type Seemanova	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
microcéphalie-microcornée type Seemanova	localisation d'une constatation (attribut)	structure de l'encéphale	false	Inferred relationship	Some	1
microcéphalie-microcornée type Seemanova	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
microcéphalie-microcornée type Seemanova	interprète (attribut)	Birth head circumference	true	Inferred relationship	Some	1
microcéphalie-microcornée type Seemanova	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	1
microcéphalie-microcornée type Seemanova	est un(e) (attribut)	syndrome de malformations multisystémiques	true	Inferred relationship	Some
microcéphalie-microcornée type Seemanova	est un(e) (attribut)	Congenital microcephaly (disorder)	true	Inferred relationship	Some
microcéphalie-microcornée type Seemanova	est un(e) (attribut)	microcéphalie	false	Inferred relationship	Some
microcéphalie-microcornée type Seemanova	est un(e) (attribut)	Microcornea	true	Inferred relationship	Some
microcéphalie-microcornée type Seemanova	est un(e) (attribut)	X-linked hereditary disease	true	Inferred relationship	Some
microcéphalie-microcornée type Seemanova	est un(e) (attribut)	Hereditary disorder of nervous system	false	Inferred relationship	Some
microcéphalie-microcornée type Seemanova	est un(e) (attribut)	Hereditary disorder of the visual system	true	Inferred relationship	Some
microcéphalie-microcornée type Seemanova	morphologie associée (attribut)	Congenital smallness	true	Inferred relationship	Some	2
microcéphalie-microcornée type Seemanova	localisation d'une constatation (attribut)	structure de l'encéphale	false	Inferred relationship	Some	2
microcéphalie-microcornée type Seemanova	morphologie associée (attribut)	Congenital smallness	false	Inferred relationship	Some	3
microcéphalie-microcornée type Seemanova	survenue (attribut)	congénital	false	Inferred relationship	Some	3
microcéphalie-microcornée type Seemanova	localisation d'une constatation (attribut)	cornée (structure corporelle)	false	Inferred relationship	Some	3
microcéphalie-microcornée type Seemanova	survenue (attribut)	congénital	true	Inferred relationship	Some	2
microcéphalie-microcornée type Seemanova	localisation d'une constatation (attribut)	cornée (structure corporelle)	true	Inferred relationship	Some	2

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
1001201000172114	microcéphalie-microcornée type Seemanova	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3302716010	Microcephalus microcornea syndrome of Seemanova type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302717018	Microcephalus microcornea syndrome of Seemanova type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302718011	Microcephaly microcornea syndrome Seemanova type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302719015	Seemanova Lesny syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
747601000241116	microcéphalie-microcornée type Seemanova (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
929391000172110	syndrome de Seemanova-Lesny	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3302720014	Extremely rare syndrome with features of microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. This syndrome is transmitted as an X-linked trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core