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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3314682016 X-linked intellectual disability Armfield type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314684015 Armfield syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401923019 X-linked intellectual disability, Armfield type is characterized by 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/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401924013 X-linked intellectual disability, Armfield type is characterised by 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/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked intellectual disability Armfield type (disorder) Is a Mental retardation false Inferred relationship Some
X-linked intellectual disability Armfield type (disorder) Is a X-linked hereditary disease false Inferred relationship Some
X-linked intellectual disability Armfield type (disorder) Is a Congenital malformation syndrome (disorder) true Inferred relationship Some
X-linked intellectual disability Armfield type (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 1
X-linked intellectual disability Armfield type (disorder) Occurrence Congenital true Inferred relationship Some 1
X-linked intellectual disability Armfield type (disorder) Is a Intellectual disability true Inferred relationship Some
X-linked intellectual disability Armfield type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
X-linked intellectual disability Armfield type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
X-linked intellectual disability Armfield type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
X-linked intellectual disability Armfield type (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some
X-linked intellectual disability Armfield type (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 2
X-linked intellectual disability Armfield type (disorder) Has interpretation Impaired true Inferred relationship Some 2
X-linked intellectual disability Armfield type (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 3
X-linked intellectual disability Armfield type (disorder) Has interpretation Impaired true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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