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719017003: déficience intellectuelle liée à l'X type Armfield (trouble)


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
753441000241113 déficience intellectuelle liée à l'X type Armfield (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
873421000172111 syndrome d'Armfield fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
982451000172114 déficience intellectuelle liée à l'X type Armfield fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked intellectual disability Armfield type (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique 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) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
X-linked intellectual disability Armfield type (disorder) est un(e) (attribut) X-linked recessive hereditary disease true Inferred relationship Some
X-linked intellectual disability Armfield type (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
X-linked intellectual disability Armfield type (disorder) est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
X-linked intellectual disability Armfield type (disorder) est un(e) (attribut) Congenital malformation syndrome (disorder) true Inferred relationship Some
X-linked intellectual disability Armfield type (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
X-linked intellectual disability Armfield type (disorder) survenue (attribut) congénital true Inferred relationship Some 1
X-linked intellectual disability Armfield type (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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