FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

718905007: X-linked intellectual disability Shrimpton 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
3313636016 X-linked intellectual disability Shrimpton type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314368014 X-linked intellectual disability Shrimpton type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401899010 An X-linked syndromic intellectual disability characterized by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401900017 An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described. 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 Shrimpton type Is a Mental retardation false Inferred relationship Some
X-linked intellectual disability Shrimpton type Is a X-linked hereditary disease false Inferred relationship Some
X-linked intellectual disability Shrimpton type Is a Intellectual disability true Inferred relationship Some
X-linked intellectual disability Shrimpton type Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
X-linked intellectual disability Shrimpton type Is a Developmental hereditary disorder true Inferred relationship Some
X-linked intellectual disability Shrimpton type Is a X-linked recessive hereditary disease true Inferred relationship Some
X-linked intellectual disability Shrimpton type Interprets Intellectual ability (observable entity) true Inferred relationship Some 2
X-linked intellectual disability Shrimpton type Has interpretation Impaired true Inferred relationship Some 2
X-linked intellectual disability Shrimpton type Interprets Adaptation behavior (observable entity) true Inferred relationship Some 3
X-linked intellectual disability Shrimpton type Has interpretation Impaired true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start