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412787009: Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2004. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
2474343011 Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth en Synonym Active Entire term case insensitive SNOMED CT core module
2478440016 Ohdo blepharophimosis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3643123015 Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3643126011 Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth en Synonym Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Is a Congenital heart disease true Inferred relationship Existential restriction modifier
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Is a Mental retardation false Inferred relationship Existential restriction modifier
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Is a Disorder of tooth development false Inferred relationship Existential restriction modifier
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Is a Congenital blepharophimosis false Inferred relationship Existential restriction modifier
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Occurrence Congenital false Inferred relationship Existential restriction modifier
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Narrowed structure true Inferred relationship Existential restriction modifier 3
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Structure of orbit proper false Inferred relationship Existential restriction modifier 2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Eyelid structure false Inferred relationship Existential restriction modifier 2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Structure of palpebral fissure true Inferred relationship Existential restriction modifier 3
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 3
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 4
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Tooth structure true Inferred relationship Existential restriction modifier 1
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Face structure false Inferred relationship Existential restriction modifier 4
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Heart structure false Inferred relationship Existential restriction modifier 1
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 4
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Occurrence Congenital true Inferred relationship Existential restriction modifier 4
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 4
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Eyelid structure true Inferred relationship Existential restriction modifier 4
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Occurrence Congenital false Inferred relationship Existential restriction modifier 5
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 5
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Heart structure false Inferred relationship Existential restriction modifier 5
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Narrowed structure false Inferred relationship Existential restriction modifier 1
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Structure of palpebral fissure false Inferred relationship Existential restriction modifier 1
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Is a Intellectual disability false Inferred relationship Existential restriction modifier
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Heart structure true Inferred relationship Existential restriction modifier 2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 4
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Deformity true Inferred relationship Existential restriction modifier 4
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Is a Blepharophimosis, intellectual disability syndrome true Inferred relationship Existential restriction modifier
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier 1
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Is a Congenital anomaly of tooth true Inferred relationship Existential restriction modifier
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Interprets Intellectual ability true Inferred relationship Existential restriction modifier 5
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Has interpretation Impaired true Inferred relationship Existential restriction modifier 5
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 6
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Has interpretation Impaired true Inferred relationship Existential restriction modifier 6

Inbound Relationships Type Active Source Characteristic Refinability Group
Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type Is a False Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Inferred relationship Existential restriction modifier
Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type Is a False Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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