720572004: Brachydactyly with syndactyly Zhao type (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Deformity (finding)\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Finding of limb structure (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Syndactyly (disorder)\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachydactyly with syndactyly Zhao type (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Brachydactyly with syndactyly Zhao type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Syndactyly (disorder)\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Brachydactyly with syndactyly Zhao type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Symbrachydactyly\Brachydactyly with syndactyly Zhao type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3321285013	Brachydactyly with syndactyly Zhao type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321286014	Brachydactyly with syndactyly Zhao type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5402409011	Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321285013	Brachydactyly with syndactyly Zhao type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321286014	Brachydactyly with syndactyly Zhao type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321287017	A recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the second and fifth fingers and absence of middle phalanges of the second to fifth toes) and a syndactyly of the second and third toes. Metacarpals and metatarsals anomalies are common. This syndrome has been described in two families. It is caused by HOXD13 mutations in 2q31-q32. Inherited as an autosomal dominant trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402409011	Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3453171001000118	Brachydaktylie-Syndaktylie Typ Zhao	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
975881000172118	brachydactylie-syndactylie type Zhao	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
975881000172118	brachydactylie-syndactylie type Zhao	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3453171001000118	Brachydaktylie-Syndaktylie Typ Zhao	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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