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1354648006: Mayer Rokitansky Küster Hauser syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jan 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5423631011 Mayer Rokitansky Küster Hauser syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5423632016 Mayer Rokitansky Küster Hauser syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5423633014 MRKH syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5423634015 Rokitansky syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5423635019 A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5423636018 A rare spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mayer Rokitansky Küster Hauser syndrome (disorder) Is a Malformation sequence true Inferred relationship Some
Mayer Rokitansky Küster Hauser syndrome (disorder) Is a Congenital absence of uterus true Inferred relationship Some
Mayer Rokitansky Küster Hauser syndrome (disorder) Is a Genetic disease true Inferred relationship Some
Mayer Rokitansky Küster Hauser syndrome (disorder) Is a Congenital absence of vagina true Inferred relationship Some
Mayer Rokitansky Küster Hauser syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Mayer Rokitansky Küster Hauser syndrome (disorder) Finding site Structure of upper third of vagina true Inferred relationship Some 1
Mayer Rokitansky Küster Hauser syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1
Mayer Rokitansky Küster Hauser syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Mayer Rokitansky Küster Hauser syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Mayer Rokitansky Küster Hauser syndrome (disorder) Finding site Uterine structure true Inferred relationship Some 2
Mayer Rokitansky Küster Hauser syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 2
Mayer Rokitansky Küster Hauser syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Mayer Rokitansky Küster Hauser syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Mayer Rokitansky Küster Hauser syndrome (disorder) Finding site Structure of middle third of vagina true Inferred relationship Some 3
Mayer Rokitansky Küster Hauser syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 3
Mayer Rokitansky Küster Hauser syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group
Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder) Is a True Mayer Rokitansky Küster Hauser syndrome (disorder) Inferred relationship Some
Mayer Rokitansky Küster Hauser syndrome type 1 Is a True Mayer Rokitansky Küster Hauser syndrome (disorder) Inferred relationship Some

Reference Sets

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

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