2884008: Weill-Marchesani syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Weill-Marchesani syndrome
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Weill-Marchesani syndrome

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

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

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Weill-Marchesani syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Weill-Marchesani syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Weill-Marchesani syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Weill-Marchesani syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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 of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\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\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Weill-Marchesani syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Weill-Marchesani syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Weill-Marchesani syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Weill-Marchesani syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Weill-Marchesani syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Weill-Marchesani syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Weill-Marchesani syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Weill-Marchesani syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Weill-Marchesani syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Weill-Marchesani syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Weill-Marchesani syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Weill-Marchesani syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Weill-Marchesani syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Weill-Marchesani syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital anomaly of lens shape\Lentiglobus\Spherophakia\Weill-Marchesani syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Weill-Marchesani syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Weill-Marchesani syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Weill-Marchesani syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Weill-Marchesani syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3011499012 Spherophakia-brachymorphia syndrome en Synonym Active Case insensitive SNOMED CT core

5884017 Weill-Marchesani syndrome en Synonym Active Case sensitive SNOMED CT core

5885016 Brachydactyly-spherophakia syndrome en Synonym Active Case insensitive SNOMED CT core

5886015 Marchesani's syndrome en Synonym Active Case sensitive SNOMED CT core

5887012 Brachymorphy with spherophakia syndrome en Synonym Active Case insensitive SNOMED CT core

759566011 Weill-Marchesani syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Weill-Marchesani syndrome	Pathological process	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	Pathological developmental process	true	Inferred relationship	Some	1
Weill-Marchesani syndrome	Pathological process	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
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	Congenital anomaly	false	Inferred relationship	Some	2
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	Congenital skeletal dysplasia	true	Inferred relationship	Some
Weill-Marchesani syndrome	Is a	Congenital anomaly	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	Structure of lens of eye	false	Inferred relationship	Some	3
Weill-Marchesani syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Weill-Marchesani syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	3
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	Structure of lens of eye	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	Multisystem disorder	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	Structure of lens of eye	false	Inferred relationship	Some	2
Weill-Marchesani syndrome	Finding site	Musculoskeletal structure of digit	false	Inferred relationship	Some
Weill-Marchesani syndrome	Associated morphology	Developmental abnormality	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	false	Inferred relationship	Some
Weill-Marchesani syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department 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
3011499012	Spherophakia-brachymorphia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5884017	Weill-Marchesani syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5885016	Brachydactyly-spherophakia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5886015	Marchesani's syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5887012	Brachymorphy with spherophakia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
759566011	Weill-Marchesani syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core