716111003: syndroom van anomalie van ductus paramesonephricus en extremiteit (aandoening)

• 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
7009661000146117	syndroom van anomalie van ductus paramesonephricus en extremiteit	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7009671000146111	syndroom van anomalie van gang van Müller en extremiteit	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7009681000146113	syndroom van anomalie van buis van Müller en extremiteit	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7009691000146110	syndroom van anomalie van ductus paramesonephricus en extremiteit (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

Description inactivation indicator reference set

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