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719017003: X-linked intellectual disability Armfield type (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3314681011 X-linked intellectual disability Armfield type (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3314682016 X-linked intellectual disability Armfield type en Synonym Active Case sensitive SNOMED CT core
3314684015 Armfield syndrome en Synonym Active Case sensitive SNOMED CT core
3314683014 This syndrome has characteristics of intellectual deficiency, short stature, seizures and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts and or glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28. 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 Armfield type Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
X-linked intellectual disability Armfield type Pathological process Pathological developmental process true Inferred relationship Some 1
X-linked intellectual disability Armfield type Is a Developmental hereditary disorder true Inferred relationship Some
X-linked intellectual disability Armfield type Is a X-linked recessive hereditary disease true Inferred relationship Some
X-linked intellectual disability Armfield type Interprets Intellectual ability true Inferred relationship Some 2
X-linked intellectual disability Armfield type Has interpretation Impaired true Inferred relationship Some 2
X-linked intellectual disability Armfield type Interprets Adaptation behaviour true Inferred relationship Some 3
X-linked intellectual disability Armfield type Has interpretation Impaired true Inferred relationship Some 3
X-linked intellectual disability Armfield type Is a Intellectual disability false Inferred relationship Some
X-linked intellectual disability Armfield type Is a X-linked hereditary disease false Inferred relationship Some
X-linked intellectual disability Armfield type Is a Congenital malformation syndrome true Inferred relationship Some
X-linked intellectual disability Armfield type Associated morphology Developmental abnormality false Inferred relationship Some 1
X-linked intellectual disability Armfield type Occurrence Congenital true Inferred relationship Some 1
X-linked intellectual disability Armfield type Is a Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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