725149008: Auricular abnormality, cleft lip, ocular abnormality syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\Digestive system finding (finding)\Finding of mouth region (finding)\Oral lesion\Lesion of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Digestive system finding (finding)\Finding of mouth region (finding)\constatation à propos d'une lèvre\Lesion of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Digestive system finding (finding)\Finding of mouth region (finding)\constatation à propos d'une lèvre\Disorder of lip\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Digestive system finding (finding)\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Digestive system finding (finding)\Finding of mouth region (finding)\maladie de la cavité buccale\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome

\constatation générale à propos des tissus mous\constatation à propos d'une lèvre\Lesion of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\constatation générale à propos des tissus mous\constatation à propos d'une lèvre\Disorder of lip\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\constatation générale à propos des tissus mous\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome

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

\Finding of head region\Orofacial cleft (disorder)\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Finding of head region\Finding of mouth region (finding)\Oral lesion\Lesion of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Finding of head region\Finding of mouth region (finding)\constatation à propos d'une lèvre\Lesion of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Finding of head region\Finding of mouth region (finding)\constatation à propos d'une lèvre\Disorder of lip\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Finding of head region\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Finding of head region\Finding of mouth region (finding)\maladie de la cavité buccale\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Finding of head region\Finding of face\Lesion of face (finding)\Lesion of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Finding of head region\Finding of face\constatation à propos d'une lèvre\Lesion of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Finding of head region\Finding of face\constatation à propos d'une lèvre\Disorder of lip\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome

\affection de la tête\Disorder of soft tissue of head\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\affection de la tête\maladie de la cavité buccale\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\affection de la tête\Disorder of face (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\affection de la tête\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome

\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\affection de la tête\Disorder of soft tissue of head\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\affection de la tête\maladie de la cavité buccale\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\affection de la tête\Disorder of face (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\affection de la tête\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\Disorder of soft tissue\lésion de tissu mou\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Auricular abnormality, cleft lip, ocular abnormality syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3498233011 Auricular abnormality, cleft lip, ocular abnormality syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498234017 Auricular abnormality, cleft lip, ocular abnormality syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3499909016 The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities. 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
Auricular abnormality, cleft lip, ocular abnormality syndrome	localisation d'une constatation (attribut)	lèvre de la bouche (structure corporelle)	true	Inferred relationship	Some	1
Auricular abnormality, cleft lip, ocular abnormality syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Auricular abnormality, cleft lip, ocular abnormality syndrome	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	2
Auricular abnormality, cleft lip, ocular abnormality syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Auricular abnormality, cleft lip, ocular abnormality syndrome	localisation d'une constatation (attribut)	Auricular region structure	true	Inferred relationship	Some	2
Auricular abnormality, cleft lip, ocular abnormality syndrome	morphologie associée (attribut)	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Auricular abnormality, cleft lip, ocular abnormality syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Auricular abnormality, cleft lip, ocular abnormality syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Auricular abnormality, cleft lip, ocular abnormality syndrome	localisation d'une constatation (attribut)	structure osseuse de la tête (structure corporelle)	false	Inferred relationship	Some	3
Auricular abnormality, cleft lip, ocular abnormality syndrome	morphologie associée (attribut)	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	3
Auricular abnormality, cleft lip, ocular abnormality syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Auricular abnormality, cleft lip, ocular abnormality syndrome	est un(e) (attribut)	Cleft lip	true	Inferred relationship	Some
Auricular abnormality, cleft lip, ocular abnormality syndrome	est un(e) (attribut)	syndrome de malformations multisystémiques	true	Inferred relationship	Some
Auricular abnormality, cleft lip, ocular abnormality syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Auricular abnormality, cleft lip, ocular abnormality syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	4
Auricular abnormality, cleft lip, ocular abnormality syndrome	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	5
Auricular abnormality, cleft lip, ocular abnormality syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	5
Auricular abnormality, cleft lip, ocular abnormality syndrome	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	3
Auricular abnormality, cleft lip, ocular abnormality syndrome	localisation d'une constatation (attribut)	Structure of internal part of mouth	false	Inferred relationship	Some	3
Auricular abnormality, cleft lip, ocular abnormality syndrome	localisation d'une constatation (attribut)	lèvre de la bouche (structure corporelle)	false	Inferred relationship	Some	4
Auricular abnormality, cleft lip, ocular abnormality syndrome	localisation d'une constatation (attribut)	Auricular region structure	false	Inferred relationship	Some	5
Auricular abnormality, cleft lip, ocular abnormality syndrome	morphologie associée (attribut)	Developmental failure of fusion (morphologic abnormality)	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

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Id	Description	Lang	Type	Status	Case?	Module
3498233011	Auricular abnormality, cleft lip, ocular abnormality syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498234017	Auricular abnormality, cleft lip, ocular abnormality syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499909016	The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core