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719011002: X-linked intellectual disability Pai 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
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
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
3896951000052112 X-bunden intellektuell funktionsnedsättning, Paityp 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 Pai type (disorder) Is a mental retardation false Inferred relationship Some
X-linked intellectual disability Pai type (disorder) Is a X-linked hereditary disease false Inferred relationship Some
X-linked intellectual disability Pai type (disorder) Is a Congenital malformation syndrome (disorder) true Inferred relationship Some
X-linked intellectual disability Pai type (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 1
X-linked intellectual disability Pai type (disorder) Occurrence Congenital true Inferred relationship Some 1
X-linked intellectual disability Pai type (disorder) Is a Intellectual disability true Inferred relationship Some
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) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
X-linked intellectual disability Pai type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
X-linked intellectual disability Pai type (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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