699297004: Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (disorder)

SNOMED CT Concept\constatation clinique\...

\Deformity (finding)\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Deformity (finding)\anomalie morphologique congénitale\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type

\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 ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\Lesion of face (finding)\lésion de la paupière\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\constatation à propos d'une paupière\Palpebral fissure finding (finding)\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\constatation à propos d'une paupière\lésion de la paupière\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\constatation à propos d'une paupière\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\Disorder of face (disorder)\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type

\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\affection de la tête\Disorder of face (disorder)\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type

\constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\Palpebral fissure finding (finding)\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\lésion de la paupière\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Ohdo syndrome, Maat-Kievit-Brunner type
\constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\affection de la tête\Disorder of face (disorder)\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\trouble du développement\Developmental hereditary disorder\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type

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

2983555013 Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type (disorder) en Fully specified name Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
2983700013 Ohdo syndrome, Maat-Kievit-Brunner type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2983702017 Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983727012 X-linked Ohdo syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3643148017 Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3643149013 Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ohdo syndrome, Maat-Kievit-Brunner type	morphologie associée (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some	1
Ohdo syndrome, Maat-Kievit-Brunner type	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Ohdo syndrome, Maat-Kievit-Brunner type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ohdo syndrome, Maat-Kievit-Brunner type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Ohdo syndrome, Maat-Kievit-Brunner type	morphologie associée (attribut)	Deformity	true	Inferred relationship	Some	2
Ohdo syndrome, Maat-Kievit-Brunner type	est un(e) (attribut)	Blepharophimosis, intellectual disability syndrome (disorder)	true	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	est un(e) (attribut)	Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	false	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	est un(e) (attribut)	Hereditary disorder of the visual system	true	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	est un(e) (attribut)	Digestive system hereditary disorder	false	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	est un(e) (attribut)	X-linked hereditary disease	true	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	est un(e) (attribut)	Cardiovascular system hereditary disorder	false	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	survenue (attribut)	congénital	false	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	localisation d'une constatation (attribut)	dent (structure corporelle)	false	Inferred relationship	Some	4
Ohdo syndrome, Maat-Kievit-Brunner type	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	6
Ohdo syndrome, Maat-Kievit-Brunner type	localisation d'une constatation (attribut)	cœur	false	Inferred relationship	Some	6
Ohdo syndrome, Maat-Kievit-Brunner type	morphologie associée (attribut)	rétrécissement	false	Inferred relationship	Some	5
Ohdo syndrome, Maat-Kievit-Brunner type	localisation d'une constatation (attribut)	Structure of palpebral fissure	false	Inferred relationship	Some	5
Ohdo syndrome, Maat-Kievit-Brunner type	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	7
Ohdo syndrome, Maat-Kievit-Brunner type	localisation d'une constatation (attribut)	paupière (structure corporelle)	false	Inferred relationship	Some	7
Ohdo syndrome, Maat-Kievit-Brunner type	survenue (attribut)	congénital	false	Inferred relationship	Some	1
Ohdo syndrome, Maat-Kievit-Brunner type	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	1
Ohdo syndrome, Maat-Kievit-Brunner type	localisation d'une constatation (attribut)	paupière (structure corporelle)	false	Inferred relationship	Some	1
Ohdo syndrome, Maat-Kievit-Brunner type	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Ohdo syndrome, Maat-Kievit-Brunner type	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Ohdo syndrome, Maat-Kievit-Brunner type	localisation d'une constatation (attribut)	cœur	false	Inferred relationship	Some	2
Ohdo syndrome, Maat-Kievit-Brunner type	localisation d'une constatation (attribut)	cœur	false	Inferred relationship	Some	1
Ohdo syndrome, Maat-Kievit-Brunner type	localisation d'une constatation (attribut)	paupière (structure corporelle)	true	Inferred relationship	Some	2
Ohdo syndrome, Maat-Kievit-Brunner type	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Ohdo syndrome, Maat-Kievit-Brunner type	morphologie associée (attribut)	rétrécissement	true	Inferred relationship	Some	3
Ohdo syndrome, Maat-Kievit-Brunner type	localisation d'une constatation (attribut)	Structure of palpebral fissure	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2983555013	Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type (disorder)	en	Fully specified name	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
2983700013	Ohdo syndrome, Maat-Kievit-Brunner type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2983702017	Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2983727012	X-linked Ohdo syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643148017	Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3643149013	Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core