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719011002: déficience intellectuelle liée à l'X type Pai (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
3314661010 X-linked intellectual disability Pai type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314662015 X-linked intellectual disability Pai type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
753401000241110 déficience intellectuelle liée à l'X type Pai (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
916871000172118 déficience intellectuelle liée à l'X type Pai fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3314663013 This syndrome has characteristics of the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been located to the q28 region of the X chromosome. 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 Pai type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
X-linked intellectual disability Pai type (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
X-linked intellectual disability Pai type (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
X-linked intellectual disability Pai type (disorder) est un(e) (attribut) X-linked recessive hereditary disease true Inferred relationship Some
X-linked intellectual disability Pai type (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
X-linked intellectual disability Pai type (disorder) est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
X-linked intellectual disability Pai type (disorder) est un(e) (attribut) Congenital malformation syndrome (disorder) true Inferred relationship Some
X-linked intellectual disability Pai type (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
X-linked intellectual disability Pai type (disorder) survenue (attribut) congénital true Inferred relationship Some 1
X-linked intellectual disability Pai 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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