716111003: Mullerian duct and limb anomalies syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Mullerian duct and limb anomalies syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Mullerian duct and limb anomalies syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Mullerian duct and limb anomalies syndrome (disorder)
• \Disease\Disorder of embryonic structure (disorder)\Mullerian duct and limb anomalies syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Mullerian duct and limb anomalies syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Mullerian duct and limb anomalies syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Mullerian duct and limb anomalies syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Mullerian duct and limb anomalies syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3304772015	Mullerian duct and limb anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304773013	Mullerian duct and limb anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304774019	Syndrome with the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start