783137003: syndroom van radiale deficiëntie en tibiale hypoplasie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of limb\Radial deficiency, tibial hypoplasia syndrome
• \Deformity (finding)\Congenital deformity\Longitudinal deficiency of limb\Radial deficiency, tibial hypoplasia syndrome
• \Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of limb\Radial deficiency, tibial hypoplasia syndrome
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of limb\Radial deficiency, tibial hypoplasia syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Radial deficiency, tibial hypoplasia 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\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \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\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Radial deficiency, tibial hypoplasia 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\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of limb\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Radial deficiency, tibial hypoplasia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3757795017	Radial deficiency, tibial hypoplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757796016	Radial deficiency, tibial hypoplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
8879211000146116	syndroom van radiale deficiëntie en tibiale hypoplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8879221000146114	syndroom van radiale dysplasie en tibiale hypoplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8879231000146111	syndroom van radiale deficiëntie en tibiale hypoplasie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3757794018	A rare genetic dysostosis syndrome with combined reduction defects of upper and lower limbs and characteristics of bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.	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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