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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
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
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 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
3425741001000110 Intelligenzminderung, X-chromosomale, Typ Armfield de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
873421000172111 syndrome d'Armfield fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
982451000172114 déficience intellectuelle liée à l'X type Armfield fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
873421000172111 syndrome d'Armfield fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
982451000172114 déficience intellectuelle liée à l'X type Armfield fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3425741001000110 Intelligenzminderung, X-chromosomale, Typ Armfield de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked intellectual disability Armfield type (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Armfield type (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Armfield type (disorder) Is a Congenital malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Armfield type (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked intellectual disability Armfield type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked intellectual disability Armfield type (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Armfield type (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked intellectual disability Armfield type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked intellectual disability Armfield type (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Armfield type (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Armfield type (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual disability Armfield type (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual disability Armfield type (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked intellectual disability Armfield type (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 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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