720457000: Acropectorovertebral dysplasia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Acropectorovertebral dysplasia (disorder)
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Acropectorovertebral dysplasia (disorder)
• \Finding of back (finding)\Finding of spinal region\Vertebral column finding\Disorder of vertebral column (disorder)\Acropectorovertebral dysplasia (disorder)
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Acropectorovertebral dysplasia (disorder)
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Acropectorovertebral dysplasia (disorder)
• \Finding of back (finding)\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Acropectorovertebral dysplasia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\...
• \Disorder of digit\Congenital anomaly of digit (disorder)\Acropectorovertebral dysplasia (disorder)
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Acropectorovertebral dysplasia (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Musculoskeletal finding related to thorax\Finding of bone of thorax\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Musculoskeletal finding related to thorax\Finding of bone of thorax\Finding of sternum structure\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Musculoskeletal finding related to thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column (disorder)\Acropectorovertebral dysplasia (disorder)
• \Musculoskeletal finding\Bone finding\Finding of bone of thorax\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Musculoskeletal finding\Bone finding\Finding of bone of thorax\Finding of sternum structure\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Acropectorovertebral dysplasia (disorder)
• \Musculoskeletal finding\Musculoskeletal finding related to thorax\Finding of bone of thorax\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Musculoskeletal finding\Musculoskeletal finding related to thorax\Finding of bone of thorax\Finding of sternum structure\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Musculoskeletal finding\Musculoskeletal finding related to thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acropectorovertebral dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column (disorder)\Acropectorovertebral dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Acropectorovertebral dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Acropectorovertebral dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Acropectorovertebral dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acropectorovertebral dysplasia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acropectorovertebral dysplasia (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Acropectorovertebral dysplasia (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of body wall\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of body wall (disorder)\Congenital anomaly of body wall\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column (disorder)\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Acropectorovertebral dysplasia (disorder)
• \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\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \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\Dysostosis\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Acropectorovertebral dysplasia (disorder)
• \Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Acropectorovertebral dysplasia (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Acropectorovertebral dysplasia (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Acropectorovertebral dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acropectorovertebral dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of body wall\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Acropectorovertebral dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Acropectorovertebral dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital malformation of bone of thorax (disorder)\Congenital malformation of sternum\Acropectorovertebral dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acropectorovertebral dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Acropectorovertebral dysplasia (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
3320825011	Acropectorovertebral dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320826012	Acropectorovertebral dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320827015	F syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3320828013	A skeletal dysplasia with characteristics of fusion of the carpal and tarsal bones and complex anomalies of the fingers and toes. It has been described in less than 30 patients from three unrelated families. Other manifestations include prominence of the sternum with variable pectus excavatum, lumbosacral spina bifida occulta, minor craniofacial anomalies and mild intellectual deficit. This syndrome is transmitted as an autosomal dominant trait with full penetrance. The causative gene has been mapped to chromosome region 2q36.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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