720599002: Campomelia Cumming type (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of limb (finding)\Campomelia Cumming type (disorder)
• \Deformity (finding)\Deformation of bone\Campomelia Cumming type (disorder)
• \Deformity (finding)\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Campomelia Cumming type (disorder)
• \Finding of limb structure\Deformity of limb (finding)\Campomelia Cumming type (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Campomelia Cumming type (disorder)
• \Oedema\Disorder characterized by edema\Lymphoedema\Campomelia Cumming type (disorder)
• \Musculoskeletal finding\Bone finding\Deformation of bone\Campomelia Cumming type (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Campomelia Cumming type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Campomelia Cumming type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Bent bone dysplasia group\Campomelia Cumming type (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\Bent bone dysplasia group\Campomelia Cumming type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Campomelia Cumming type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Bent bone dysplasia group\Campomelia Cumming type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Campomelia Cumming type (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Campomelia Cumming type (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Campomelia Cumming type (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Campomelia Cumming type (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\Campomelia Cumming type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Campomelia Cumming type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Campomelia Cumming type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Bent bone dysplasia group\Campomelia Cumming type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Campomelia Cumming type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Campomelia Cumming type (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Campomelia Cumming type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Campomelia Cumming type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Bent bone dysplasia group\Campomelia Cumming type (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\Bent bone dysplasia group\Campomelia Cumming type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Campomelia Cumming type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Bent bone dysplasia group\Campomelia Cumming type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Campomelia Cumming type (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Campomelia Cumming type (disorder)
• \Disease\Disorder characterized by edema\Lymphoedema\Campomelia Cumming type (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Campomelia Cumming type (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Campomelia Cumming type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Campomelia Cumming type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Campomelia Cumming type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Campomelia Cumming type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Bent bone dysplasia group\Campomelia Cumming type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Campomelia Cumming type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Campomelia Cumming 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
3321490013	Campomelia Cumming type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321491012	Campomelia Cumming type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321492017	Cumming syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321493010	The association of limb defects and multivisceral anomalies. The syndrome has been reported in eight infants from four different families. Skeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalized hydrops, polycystic kidneys, pancreas and liver, fibrotic liver or pancreas, polysplenia, heterotaxia, hypoplastic lung, short bowel. All newborns reported so far were either stillborn or died shortly after birth.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321494016	The association of limb defects and multivisceral anomalies. The syndrome has been reported in eight infants from four different families. Skeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalised hydrops, polycystic kidneys, pancreas and liver, fibrotic liver or pancreas, polysplenia, heterotaxia, hypoplastic lung, short bowel. All newborns reported so far were either stillborn or died shortly after birth.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402420011	Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402421010	Campomelia, Cumming type, is characterised by the association of limb defects and multivisceral anomalies.	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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