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718845002: X-linked intellectual disability with ataxia and apraxia syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3314058013 X-linked intellectual disability with ataxia and apraxia syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3314059017 X-linked intellectual disability with ataxia and apraxia syndrome en Synonym Active Case sensitive SNOMED CT core
3314060010 This syndrome has characteristics of ataxia, apraxia, intellectual deficit and or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked intellectual disability with ataxia and apraxia syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
X-linked intellectual disability with ataxia and apraxia syndrome Is a Developmental hereditary disorder true Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome Finding site Structure of nervous system true Inferred relationship Some 3
X-linked intellectual disability with ataxia and apraxia syndrome Is a X-linked recessive hereditary disease true Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome Interprets Intellectual ability true Inferred relationship Some 4
X-linked intellectual disability with ataxia and apraxia syndrome Has interpretation Impaired true Inferred relationship Some 4
X-linked intellectual disability with ataxia and apraxia syndrome Interprets Adaptation behaviour true Inferred relationship Some 5
X-linked intellectual disability with ataxia and apraxia syndrome Has interpretation Impaired true Inferred relationship Some 5
X-linked intellectual disability with ataxia and apraxia syndrome Is a Apraxia true Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome Is a Cerebellar ataxia false Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome Is a X-linked hereditary disease false Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome Is a Hereditary disorder of nervous system false Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome Finding site Structure of musculoskeletal system true Inferred relationship Some 2
X-linked intellectual disability with ataxia and apraxia syndrome Finding site Cerebellar structure false Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome Is a Intellectual disability true Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome Is a Hereditary ataxia true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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