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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
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 Active Entire term case sensitive (core metadata concept) SNOMED CT core
980451000172110 déficience intellectuelle liée à l'X type Turner fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
980451000172110 déficience intellectuelle liée à l'X type Turner fr 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 Turner type (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Turner type (disorder) Is a X-linked hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Turner type (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Turner type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked intellectual disability Turner type (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Turner type (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual disability Turner type (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual disability Turner type (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked intellectual disability Turner 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

This concept is not in any reference sets

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