733095006: Skeletal dysplasia brachydactyly syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
• \Deformity (finding)\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
• \Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia brachydactyly syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Skeletal dysplasia brachydactyly syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Skeletal dysplasia brachydactyly syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia brachydactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Skeletal dysplasia brachydactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\Skeletal dysplasia brachydactyly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Skeletal dysplasia brachydactyly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Skeletal dysplasia brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Skeletal dysplasia brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Skeletal dysplasia brachydactyly syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Skeletal dysplasia brachydactyly syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia brachydactyly syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Skeletal dysplasia brachydactyly syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Skeletal dysplasia brachydactyly syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498741012	Mononen Karnes Senac syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498742017	Skeletal dysplasia brachydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498743010	Skeletal dysplasia brachydactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403740014	Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403741013	Mononen-Karnes-Senac syndrome is characterised by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.	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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