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


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
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
10053001000172116 BMRS (blepharophimosis and mental retardation syndrome) de type Maat-Kievit-Brunner fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
10053011000172118 syndrome de blépharophimosis et déficience intellectuelle de type Maat-Kievit-Brunner fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4257651000172110 blepharophimosis-mentale retardatie syndroom type 4 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4257661000172112 Maat-Kievit-Brunner syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ohdo syndrome, Maat-Kievit-Brunner type Is a Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) false Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Is a X-linked hereditary disease true Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Is a Cardiovascular system hereditary disorder false Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Occurrence Congenital false Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Finding site Tooth structure false Inferred relationship Some 4
Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology Congenital anomaly false Inferred relationship Some 6
Ohdo syndrome, Maat-Kievit-Brunner type Finding site Heart structure false Inferred relationship Some 6
Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology Narrowed structure (morphologic abnormality) false Inferred relationship Some 5
Ohdo syndrome, Maat-Kievit-Brunner type Finding site Structure of palpebral fissure false Inferred relationship Some 5
Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology Congenital anomaly false Inferred relationship Some 7
Ohdo syndrome, Maat-Kievit-Brunner type Finding site Eyelid structure false Inferred relationship Some 7
Ohdo syndrome, Maat-Kievit-Brunner type Occurrence Congenital false Inferred relationship Some 1
Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology Developmental anomaly false Inferred relationship Some 1
Ohdo syndrome, Maat-Kievit-Brunner type Finding site Eyelid structure false Inferred relationship Some 1
Ohdo syndrome, Maat-Kievit-Brunner type Occurrence Congenital true Inferred relationship Some 2
Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology Developmental anomaly false Inferred relationship Some 2
Ohdo syndrome, Maat-Kievit-Brunner type Finding site Heart structure false Inferred relationship Some 2
Ohdo syndrome, Maat-Kievit-Brunner type Finding site Heart structure false Inferred relationship Some 1
Ohdo syndrome, Maat-Kievit-Brunner type Finding site Eyelid structure true Inferred relationship Some 2
Ohdo syndrome, Maat-Kievit-Brunner type Occurrence Congenital true Inferred relationship Some 3
Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology Narrowed structure (morphologic abnormality) true Inferred relationship Some 3
Ohdo syndrome, Maat-Kievit-Brunner type Finding site Structure of palpebral fissure true Inferred relationship Some 3
Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology Morphologically abnormal structure (morphologic abnormality) 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 Associated morphology Deformity true Inferred relationship Some 2
Ohdo syndrome, Maat-Kievit-Brunner type Is a Blepharophimosis, intellectual disability syndrome (disorder) true Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Is a Developmental hereditary disorder true Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Interprets Intellectual ability (observable entity) true Inferred relationship Some 1
Ohdo syndrome, Maat-Kievit-Brunner type Has interpretation Impaired true Inferred relationship Some 1
Ohdo syndrome, Maat-Kievit-Brunner type Interprets Adaptation behavior (observable entity) true Inferred relationship Some 4
Ohdo syndrome, Maat-Kievit-Brunner type Has interpretation Impaired true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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