716111003: Mullerian duct and limb anomalies syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Mullerian duct and limb anomalies syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Mullerian duct and limb anomalies syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Mullerian duct and limb anomalies syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Mullerian duct and limb anomalies syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Mullerian duct and limb anomalies syndrome (disorder)
• \Disease\Developmental disorder\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
5401234011	A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401235012	A rare disorder characterised by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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