699300009: syndrome oculo-facio-cardio-dentaire (trouble)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Developmental hereditary disorder\syndrome oculo-facio-cardio-dentaire

\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\syndrome oculo-facio-cardio-dentaire

\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\syndrome oculo-facio-cardio-dentaire

\trouble du développement\Developmental hereditary disorder\syndrome oculo-facio-cardio-dentaire
\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\syndrome oculo-facio-cardio-dentaire

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1019091000172111 syndrome oculo-facio-cardio-dentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

2983577012 Microphthalmia, cataract, radiculomegaly and septal heart defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2983599016 Oculo-facio-cardio-dental syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2983608013 Microphthalmia syndromic 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2983632018 Oculofaciocardiodental syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2983690011 Oculofaciocardiodental syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

730971000241117 syndrome oculo-facio-cardio-dentaire (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

873321000172115 syndrome OFCD (oculo-facio-cardio-dentaire) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
syndrome oculo-facio-cardio-dentaire	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
syndrome oculo-facio-cardio-dentaire	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
syndrome oculo-facio-cardio-dentaire	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
syndrome oculo-facio-cardio-dentaire	est un(e) (attribut)	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Some
syndrome oculo-facio-cardio-dentaire	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
syndrome oculo-facio-cardio-dentaire	est un(e) (attribut)	syndrome de malformations multisystémiques	true	Inferred relationship	Some
syndrome oculo-facio-cardio-dentaire	survenue (attribut)	congénital	false	Inferred relationship	Some
syndrome oculo-facio-cardio-dentaire	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
syndrome oculo-facio-cardio-dentaire	survenue (attribut)	congénital	true	Inferred relationship	Some	1
syndrome oculo-facio-cardio-dentaire	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada French language reference set (foundation metadata concept)