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237918004: Klein-Waardenberg's syndrome (disorder)

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

\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Klein-Waardenberg's syndrome

\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Klein-Waardenberg's syndrome

\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Klein-Waardenberg's syndrome
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Klein-Waardenberg's syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Klein-Waardenberg's syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Klein-Waardenberg's syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Klein-Waardenberg's syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Klein-Waardenberg's syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Klein-Waardenberg's syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Klein-Waardenberg'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
Klein-Waardenberg's syndrome	Is a	Multisystem disorder W-X	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Is a	Albinism	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Finding site	Eye structure	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Finding site	Structure of skin region	false	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Associated morphology	medfödd brist	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Klein-Waardenberg's syndrome	Associated morphology	kongenital hypopigmentering	false	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Is a	multisystemsjukdom	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Finding site	Eye region structure (body structure)	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Associated morphology	kongenital hypopigmentering	false	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Finding site	Eye structure	false	Inferred relationship	Some	2
Klein-Waardenberg's syndrome	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Is a	Site-specific disorder of skin	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Is a	Congenital deficiency of pigment of skin	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Is a	medfödda missbildningssyndrom som omfattar extremiteter	false	Inferred relationship	Some
Klein-Waardenberg's syndrome	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Associated morphology	medfödd missbildning	false	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Associated morphology	medfödd missbildning	false	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Finding site	Musculoskeletal structure of limb	true	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Klein-Waardenberg's syndrome	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Klein-Waardenberg's syndrome	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some	2
Klein-Waardenberg's syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Klein-Waardenberg's syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Klein-Waardenberg's syndrome	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
Klein-Waardenberg's syndrome	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
356581013	Klein-Waardenberg's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
626718019	Klein-Waardenberg's syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2840009017	Klein-Waardenberg syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2007741000052118	Klein-Waardenbergs syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)