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2884008: Weill-Marchesani syndrome (disorder)

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

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Weill-Marchesani syndrome
\Deformity (finding)\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Weill-Marchesani syndrome

\Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Weill-Marchesani syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Weill-Marchesani syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Weill-Marchesani syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Weill-Marchesani syndrome

\Finding of head and neck region\Head finding (finding)\...

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Weill-Marchesani syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Weill-Marchesani 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\Weill-Marchesani syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Weill-Marchesani syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Weill-Marchesani syndrome

\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Weill-Marchesani syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Weill-Marchesani syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Weill-Marchesani syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Weill-Marchesani syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Weill-Marchesani 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\Weill-Marchesani syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Weill-Marchesani syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Weill-Marchesani syndrome
\Disease\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Weill-Marchesani syndrome
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Weill-Marchesani syndrome
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Weill-Marchesani syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Weill-Marchesani syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Weill-Marchesani syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Weill-Marchesani syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Weill-Marchesani syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Weill-Marchesani syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Weill-Marchesani syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Weill-Marchesani syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Weill-Marchesani syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Weill-Marchesani syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Weill-Marchesani syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Weill-Marchesani syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Weill-Marchesani syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Weill-Marchesani syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Weill-Marchesani syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital anomaly of lens shape\Lentiglobus (disorder)\Spherophakia\Weill-Marchesani syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Weill-Marchesani syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Weill-Marchesani syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Weill-Marchesani syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Weill-Marchesani 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
Weill-Marchesani syndrome	Is a	Brachydactyly	true	Inferred relationship	Some
Weill-Marchesani syndrome	Is a	Spherophakia	true	Inferred relationship	Some
Weill-Marchesani syndrome	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Weill-Marchesani syndrome	Finding site	Lens clear	true	Inferred relationship	Some	3
Weill-Marchesani syndrome	Finding site	Musculoskeletal system structure of digit (body structure)	false	Inferred relationship	Some
Weill-Marchesani syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some
Weill-Marchesani syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Weill-Marchesani syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Weill-Marchesani syndrome	Finding site	Digit structure	false	Inferred relationship	Some	2
Weill-Marchesani syndrome	Associated morphology	Congenital abnormal roundness	true	Inferred relationship	Some	3
Weill-Marchesani syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Weill-Marchesani syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Weill-Marchesani syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Weill-Marchesani syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	2
Weill-Marchesani syndrome	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Weill-Marchesani syndrome	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
Weill-Marchesani syndrome	Finding site	Limb structure	false	Inferred relationship	Some	2
Weill-Marchesani syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Weill-Marchesani syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Weill-Marchesani syndrome	Is a	Congenital malformation	false	Inferred relationship	Some
Weill-Marchesani syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Weill-Marchesani syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	2
Weill-Marchesani syndrome	Finding site	Digit structure	false	Inferred relationship	Some	2
Weill-Marchesani syndrome	Associated morphology	Congenital abnormal roundness	false	Inferred relationship	Some	3
Weill-Marchesani syndrome	Finding site	Lens clear	false	Inferred relationship	Some	3
Weill-Marchesani syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Weill-Marchesani syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Weill-Marchesani syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Weill-Marchesani syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Weill-Marchesani syndrome	Finding site	Lens clear	false	Inferred relationship	Some	6
Weill-Marchesani syndrome	Finding site	Bone structure	false	Inferred relationship	Some	4
Weill-Marchesani syndrome	Associated morphology	Congenital abnormal shape	false	Inferred relationship	Some	6
Weill-Marchesani syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Weill-Marchesani syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	5
Weill-Marchesani syndrome	Finding site	Digit structure	false	Inferred relationship	Some	5
Weill-Marchesani syndrome	Is a	trouble multisytémique	false	Inferred relationship	Some
Weill-Marchesani syndrome	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Weill-Marchesani syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Weill-Marchesani syndrome	Finding site	Entire digit	true	Inferred relationship	Some	1
Weill-Marchesani syndrome	Associated morphology	Congenital abnormal roundness	false	Inferred relationship	Some	2
Weill-Marchesani syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Weill-Marchesani syndrome	Finding site	Lens clear	false	Inferred relationship	Some	2
Weill-Marchesani syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Weill-Marchesani syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Weill-Marchesani syndrome	Finding site	Bone structure	true	Inferred relationship	Some	2
Weill-Marchesani syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Weill-Marchesani syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Weill-Marchesani syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Weill-Marchesani syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Weill-Marchesani syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5884017	Weill-Marchesani syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5885016	Brachydactyly-spherophakia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5886015	Marchesani's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5887012	Brachymorphy with spherophakia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
759566011	Weill-Marchesani syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3011499012	Spherophakia-brachymorphia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
69321000077115	syndrome de brachymorphie avec sphérophaxie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
891221000172118	syndrome de Weill-Marchesani	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1000571000172113	syndrome de sphérophakie-brachymorphie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module