FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

718393002: Atypical Rett syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3306452010 Atypical Rett syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3312131019 Atypical Rett syndrome en Synonym Active Initial character case insensitive SNOMED CT core
3312132014 A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfil all the diagnostic criteria for typical Rett syndrome. Several subvariants have been defined; the early-onset seizure type (Hanefeld), congenital variant (Rolando), the 'forme fruste' type, the late childhood regression form and the preserved speech variant (PSD or Zappella variant). Diagnosis relies on clinical evaluation using the diagnostic criteria for atypical Rett originally defined by Hagberg in 1994: an atypical case must meet at least three of the six main criteria and at least five of the eleven supportive criteria. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Atypical Rett syndrome Is a X-linked hereditary disease true Inferred relationship Some
Atypical Rett syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Atypical Rett syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Atypical Rett syndrome Is a Hereditary disease false Inferred relationship Some
Atypical Rett syndrome Is a Pervasive developmental disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Mental health disorder reference set

Problem/Diagnosis reference set

Back to Start