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718912003: X-linked intellectual disability Turner 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
3314396015 X-linked intellectual disability Turner type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314397012 X-linked intellectual disability Turner type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314398019 X-linked mental retardation, Turner type has characteristics of moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
3901501000052117 X-bunden intellektuell funktionsnedsättning, Turnertyp sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked intellectual disability Turner type (disorder) Is a mental retardation false Inferred relationship Some
X-linked intellectual disability Turner type (disorder) Is a X-linked hereditary disease true Inferred relationship Some
X-linked intellectual disability Turner type (disorder) Is a Intellectual disability true Inferred relationship Some
X-linked intellectual disability Turner type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
X-linked intellectual disability Turner type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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