716111003: Mullerian duct and limb anomalies syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Mullerian duct and limb anomalies syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Mullerian duct and limb anomalies syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Mullerian duct and limb anomalies syndrome
• \Disease\Disorder of embryonic structure\Mullerian duct and limb anomalies syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Mullerian duct and limb anomalies syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Mullerian duct and limb anomalies syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Mullerian duct and limb anomalies syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Mullerian duct and limb anomalies syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3304773013	Mullerian duct and limb anomalies syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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