720599002: Campomelia Cumming type (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Campomelia Cumming type
\Deformity\Congenital deformity\Campomelia Cumming type
\Deformity\Deformity of bone\Campomelia Cumming type

\Finding of limb structure\Deformity of limb\Campomelia Cumming type
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Campomelia Cumming type

\Oedema\Disorder characterised by oedema\Lymphoedema\Campomelia Cumming type

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Campomelia Cumming type
\Musculoskeletal finding\Bone finding\Disorder of bone\Deformity of bone\Campomelia Cumming type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Campomelia Cumming type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Bent bone dysplasia group\Campomelia Cumming type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Campomelia Cumming type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Campomelia Cumming type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Bent bone dysplasia group\Campomelia Cumming type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Campomelia Cumming type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Campomelia Cumming type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Campomelia Cumming type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Campomelia Cumming type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Campomelia Cumming type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Campomelia Cumming type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Bent bone dysplasia group\Campomelia Cumming type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Campomelia Cumming type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Campomelia Cumming type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Bent bone dysplasia group\Campomelia Cumming type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Campomelia Cumming type
\Disease\Disorder of extremity\Congenital anomaly of limb\Campomelia Cumming type
\Disease\Disorder characterised by oedema\Lymphoedema\Campomelia Cumming type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Campomelia Cumming type
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Campomelia Cumming type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Bent bone dysplasia group\Campomelia Cumming type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Campomelia Cumming type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Campomelia Cumming type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Campomelia Cumming type
\Disease\Developmental disorder\Developmental hereditary disorder\Campomelia Cumming type
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Campomelia Cumming type
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Campomelia Cumming type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Bent bone dysplasia group\Campomelia Cumming type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Bent bone dysplasia group\Campomelia Cumming type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Campomelia Cumming type

Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core

3321491012 Campomelia Cumming type en Synonym Active Initial character case insensitive SNOMED CT core

3321492017 Cumming syndrome en Synonym Active Case sensitive 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 Active Case sensitive 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 Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Campomelia Cumming type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Campomelia Cumming type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Campomelia Cumming type	Occurrence	Congenital	true	Inferred relationship	Some	2
Campomelia Cumming type	Occurrence	Congenital	true	Inferred relationship	Some	1
Campomelia Cumming type	Finding site	Bone structure of extremity	true	Inferred relationship	Some	2
Campomelia Cumming type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Campomelia Cumming type	Finding site	Bone structure	true	Inferred relationship	Some	1
Campomelia Cumming type	Associated morphology	Congenital abnormal curvature	true	Inferred relationship	Some	2
Campomelia Cumming type	Is a	Congenital deformity	true	Inferred relationship	Some
Campomelia Cumming type	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Campomelia Cumming type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Campomelia Cumming type	Is a	Lymphoedema	true	Inferred relationship	Some
Campomelia Cumming type	Associated morphology	Lymphatic oedema	true	Inferred relationship	Some	3
Campomelia Cumming type	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Campomelia Cumming type	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
Campomelia Cumming type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Campomelia Cumming type	Is a	Hereditary lymphoedema	false	Inferred relationship	Some
Campomelia Cumming type	Is a	Deformity of bone	true	Inferred relationship	Some
Campomelia Cumming type	Is a	Bent bone dysplasia group	true	Inferred relationship	Some
Campomelia Cumming type	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Campomelia Cumming type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Campomelia Cumming type	Is a	Deformity of limb	true	Inferred relationship	Some
Campomelia Cumming type	Associated morphology	Congenital abnormal curvature	false	Inferred relationship	Some	4
Campomelia Cumming type	Occurrence	Congenital	false	Inferred relationship	Some	4
Campomelia Cumming type	Finding site	Bone structure of extremity	false	Inferred relationship	Some	4
Campomelia Cumming type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	5
Campomelia Cumming type	Occurrence	Congenital	false	Inferred relationship	Some	5
Campomelia Cumming type	Finding site	Bone structure	false	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3321490013	Campomelia Cumming type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3321491012	Campomelia Cumming type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3321492017	Cumming syndrome	en	Synonym	Active	Case sensitive	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	Active	Case sensitive	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	Active	Case sensitive	SNOMED CT core