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8793008: Rokitansky sequence (disorder)

Status: retired, 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

4591688011 Describes a spectrum of Mullerian duct anomalies with congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). MRKH syndrome was thought to be purely sporadic but familial cases seem to be inherited autosomal dominantly with incomplete penetrance and variable expressivity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

15502012 Rokitansky sequence en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

507815011 Mayer-Rokitansky-Kuster syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

830508011 Rokitansky sequence (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3993218014 Congenital absence of uterus and vagina en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1599691000005116 Rokitanskys sekvens da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Rokitanskys sekvens	Is a	Imperforate vagina	false	Inferred relationship	Some
Rokitanskys sekvens	Is a	Malformation sequence	false	Inferred relationship	Some
Rokitanskys sekvens	Associated morphology	kongenit atresi	false	Inferred relationship	Some	1
Rokitanskys sekvens	Finding site	Vaginal structure	false	Inferred relationship	Some	1
Rokitanskys sekvens	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Rokitanskys sekvens	Occurrence	Congenital	false	Inferred relationship	Some
Rokitanskys sekvens	Finding site	Entire genital organ (body structure)	false	Inferred relationship	Some	2
Rokitanskys sekvens	Course	Multiple superficial injuries of lower leg	false	Inferred relationship	Some
Rokitanskys sekvens	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Rokitanskys sekvens	Is a	Agenesis of vagina	false	Inferred relationship	Some
Rokitanskys sekvens	Associated morphology	Kongenit malformation	false	Inferred relationship	Some	1
Rokitanskys sekvens	Finding site	Female genital tract	false	Inferred relationship	Some
Rokitanskys sekvens	Is a	Congenital absence of vagina	false	Inferred relationship	Some
Rokitanskys sekvens	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Rokitanskys sekvens	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Rokitanskys sekvens	Finding site	Vaginal structure	false	Inferred relationship	Some	1
Rokitanskys sekvens	Occurrence	Congenital	false	Inferred relationship	Some	2
Rokitanskys sekvens	Finding site	Vaginal structure	false	Inferred relationship	Some	2
Rokitanskys sekvens	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Rokitanskys sekvens	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Rokitanskys sekvens	Occurrence	Congenital	false	Inferred relationship	Some	1
Rokitanskys sekvens	Finding site	Vaginal structure	false	Inferred relationship	Some	1
Rokitanskys sekvens	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Rokitanskys sekvens	Is a	Congenital anomaly of vagina	false	Inferred relationship	Some
Rokitanskys sekvens	Is a	Vagina absent (finding)	false	Inferred relationship	Some
Rokitanskys sekvens	Finding site	Structure of upper third of vagina (body structure)	false	Inferred relationship	Some	1
Rokitanskys sekvens	Finding site	Uterine structure	false	Inferred relationship	Some	2
Rokitanskys sekvens	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Rokitanskys sekvens	Finding site	Structure of middle third of vagina	false	Inferred relationship	Some	3
Rokitanskys sekvens	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Rokitanskys sekvens	Occurrence	Congenital	false	Inferred relationship	Some	3
Rokitanskys sekvens	Is a	Congenital absence of uterus	false	Inferred relationship	Some
Rokitanskys sekvens	Associated morphology	Absence (morphologic abnormality)	false	Inferred relationship	Some	1
Rokitanskys sekvens	Associated morphology	Absence (morphologic abnormality)	false	Inferred relationship	Some	2
Rokitanskys sekvens	Associated morphology	Absence (morphologic abnormality)	false	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder)	Is a	False	Rokitanskys sekvens	Inferred relationship	Some
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.	Is a	False	Rokitanskys sekvens	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4591688011	Describes a spectrum of Mullerian duct anomalies with congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). MRKH syndrome was thought to be purely sporadic but familial cases seem to be inherited autosomal dominantly with incomplete penetrance and variable expressivity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
15502012	Rokitansky sequence	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
507815011	Mayer-Rokitansky-Kuster syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
830508011	Rokitansky sequence (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3993218014	Congenital absence of uterus and vagina	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1599691000005116	Rokitanskys sekvens	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)