33979003: Nievergelt-syndroom (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Nievergelt's syndrome
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome
\Finding of limb structure\Finding of lower limb\Finding of bone of lower limb (finding)\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Finding of limb structure\Finding of lower limb\Finding of bone of lower limb (finding)\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome

\Musculoskeletal finding\Bone finding\Finding of bone of lower limb (finding)\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Musculoskeletal finding\Bone finding\Finding of bone of lower limb (finding)\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Nievergelt's syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Nievergelt's syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Nievergelt's 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\Mesomelic dysplasia\Nievergelt's 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\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's 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\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Nievergelt's syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Nievergelt's syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Nievergelt's syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Nievergelt's syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Nievergelt's syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Nievergelt's syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Mesomelic dysplasia\Nievergelt's syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Mesomelic dysplasia\Nievergelt's 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\Nievergelt's syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Nievergelt's syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Nievergelt's syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Nievergelt's syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Nievergelt's syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Nievergelt's syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Nievergelt's 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\Mesomelic dysplasia\Nievergelt's 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\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's 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\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Nievergelt's syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Nievergelt's syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Nievergelt's syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Nievergelt's syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Nievergelt's syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Nievergelt's syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Mesomelic dysplasia\Nievergelt's syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Mesomelic dysplasia\Nievergelt's syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Nievergelt's syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Nievergelt's syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Nievergelt's syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Nievergelt's syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of tibia\Congenital abnormal shape of tibia\Nievergelt's syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of fibula\Congenital abnormal shape of fibula\Nievergelt's syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Nievergelt's syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Nievergelt's syndrome	Is a	Mesomelic dysplasia	true	Inferred relationship	Some
Nievergelt's syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Nievergelt's syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Nievergelt's syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Nievergelt's syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Nievergelt's syndrome	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Nievergelt's syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Nievergelt's syndrome	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Nievergelt's syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Nievergelt's syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Nievergelt's syndrome	Finding site	Bone structure	false	Inferred relationship	Some	2
Nievergelt's syndrome	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Nievergelt's syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Nievergelt's syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Nievergelt's syndrome	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Nievergelt's syndrome	Clinical course	Progressive (qualifier value)	false	Inferred relationship	Some	2
Nievergelt's syndrome	Interprets	Height / growth measure	false	Inferred relationship	Some	3
Nievergelt's syndrome	Interprets	Limb length	true	Inferred relationship	Some	3
Nievergelt's syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Nievergelt's syndrome	Finding site	Bone structure of extremity	true	Inferred relationship	Some	1
Nievergelt's syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Nievergelt's syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Nievergelt's syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Nievergelt's syndrome	Is a	Congenital abnormal shape of fibula	true	Inferred relationship	Some
Nievergelt's syndrome	Is a	Congenital abnormal shape of tibia	true	Inferred relationship	Some
Nievergelt's syndrome	Finding site	Bone structure of tibia	true	Inferred relationship	Some	2
Nievergelt's syndrome	Associated morphology	Abnormal shape (morphologic abnormality)	true	Inferred relationship	Some	2
Nievergelt's syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Nievergelt's syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Nievergelt's syndrome	Finding site	Bone structure of fibula	true	Inferred relationship	Some	4
Nievergelt's syndrome	Associated morphology	Abnormal shape (morphologic abnormality)	true	Inferred relationship	Some	4
Nievergelt's syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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Id	Description	Lang	Type	Status	Case?	Module
56730016	Nievergelt's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
56731017	Nievergelt-Erb syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
485700013	Mesomelic dysplasia - Nievergelt type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
765446011	Nievergelt's syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2840192018	Nievergelt syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6699181000146114	syndroom van Nievergelt	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6699191000146111	Nievergelt-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10671421000146115	Nievergelt-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12739811000146114	mesomele dysplasie Nievergelt-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)