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724207001: Kleefstra 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
3432346013 Kleefstra syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
3432347016 Kleefstra 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
Kleefstra syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier
Kleefstra syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Kleefstra syndrome Is a Mental retardation false Inferred relationship Existential restriction modifier
Kleefstra syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 1
Kleefstra syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Kleefstra syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 1
Kleefstra syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Kleefstra syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Kleefstra syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Kleefstra syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Kleefstra syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 2
Kleefstra syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 2
Kleefstra syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 3
Kleefstra syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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