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719161008: Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3315210015 Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3315211016 Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation en Synonym Active Only initial character case insensitive SNOMED CT core module
3315212011 Syndromic X-linked intellectual disability due to JARID1C mutation en Synonym Active Only initial character case insensitive SNOMED CT core module
3315213018 Syndromic X-linked intellectual disability due to JARID1C (jumonji at-rich interactive domain 1c) mutation en Synonym Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Due to Genetic mutation false Inferred relationship Existential restriction modifier 1
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Is a Mental retardation false Inferred relationship Existential restriction modifier
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Is a Intellectual disability true Inferred relationship Existential restriction modifier
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 2
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Interprets Intellectual ability true Inferred relationship Existential restriction modifier 2
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Has interpretation Impaired true Inferred relationship Existential restriction modifier 2
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 3
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Has interpretation Impaired true Inferred relationship Existential restriction modifier 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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