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726709001: Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3451971012 Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3451972017 Intellectual disability, cataract, calcified pinna, myopathy syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3451973010 Primrose syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a Disorder of skeletal muscle true Inferred relationship Existential restriction modifier
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a Congenital cataract true Inferred relationship Existential restriction modifier
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a Mental retardation false Inferred relationship Existential restriction modifier
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a Pinnal calcification true Inferred relationship Existential restriction modifier
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a Hereditary disorder of the visual system true Inferred relationship Existential restriction modifier
Intellectual disability, cataract, calcified pinna, myopathy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 4
Intellectual disability, cataract, calcified pinna, myopathy syndrome Associated morphology Pathologic calcification, calcified structure false Inferred relationship Existential restriction modifier 5
Intellectual disability, cataract, calcified pinna, myopathy syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 5
Intellectual disability, cataract, calcified pinna, myopathy syndrome Finding site Pinna structure false Inferred relationship Existential restriction modifier 5
Intellectual disability, cataract, calcified pinna, myopathy syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 6
Intellectual disability, cataract, calcified pinna, myopathy syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 7
Intellectual disability, cataract, calcified pinna, myopathy syndrome Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier 4
Intellectual disability, cataract, calcified pinna, myopathy syndrome Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier 7
Intellectual disability, cataract, calcified pinna, myopathy syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 4
Intellectual disability, cataract, calcified pinna, myopathy syndrome Finding site Face structure false Inferred relationship Existential restriction modifier 4
Intellectual disability, cataract, calcified pinna, myopathy syndrome Associated morphology Congenital cataract false Inferred relationship Existential restriction modifier 6
Intellectual disability, cataract, calcified pinna, myopathy syndrome Finding site Structure of lens of eye false Inferred relationship Existential restriction modifier 6
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a Congenital abnormality of external ear true Inferred relationship Existential restriction modifier
Intellectual disability, cataract, calcified pinna, myopathy syndrome Finding site Structure of lens of eye true Inferred relationship Existential restriction modifier 2
Intellectual disability, cataract, calcified pinna, myopathy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Intellectual disability, cataract, calcified pinna, myopathy syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Intellectual disability, cataract, calcified pinna, myopathy syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Intellectual disability, cataract, calcified pinna, myopathy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Intellectual disability, cataract, calcified pinna, myopathy syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 4
Intellectual disability, cataract, calcified pinna, myopathy syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Intellectual disability, cataract, calcified pinna, myopathy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Intellectual disability, cataract, calcified pinna, myopathy syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 1
Intellectual disability, cataract, calcified pinna, myopathy syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Intellectual disability, cataract, calcified pinna, myopathy syndrome Finding site Pinna structure true Inferred relationship Existential restriction modifier 3
Intellectual disability, cataract, calcified pinna, myopathy syndrome Associated morphology Pathologic calcification, calcified structure true Inferred relationship Existential restriction modifier 3
Intellectual disability, cataract, calcified pinna, myopathy syndrome Associated morphology Cataract false Inferred relationship Existential restriction modifier 2
Intellectual disability, cataract, calcified pinna, myopathy syndrome Associated morphology Abnormally opaque structure true Inferred relationship Existential restriction modifier 2
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Intellectual disability, cataract, calcified pinna, myopathy syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 5
Intellectual disability, cataract, calcified pinna, myopathy syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 5
Intellectual disability, cataract, calcified pinna, myopathy syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 6
Intellectual disability, cataract, calcified pinna, myopathy syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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