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237918004: Waardenburg syndrome type 3 (disorder)


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

Descriptions:

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
2840009017 Klein-Waardenberg syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5143350012 Waardenburg syndrome type 3 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5143351011 Waardenburg syndrome type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5143352016 Waardenburg syndrome type III en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5143353014 Waardenburg syndrome with limb anomalies en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5143364012 A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Waardenburg syndrome type 3 (disorder) Is a Multisystem disorder W-X false Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Is a Albinism false Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Finding site Eye structure false Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Occurrence Congenital false Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Finding site Structure of skin region false Inferred relationship Some 1
Waardenburg syndrome type 3 (disorder) Associated morphology Congenital deficiency false Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Finding site Skin structure false Inferred relationship Some 3
Waardenburg syndrome type 3 (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Some 1
Waardenburg syndrome type 3 (disorder) Is a Multisystem disorder false Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Finding site Eye region structure (body structure) false Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Associated morphology Congenital hypopigmentation false Inferred relationship Some 1
Waardenburg syndrome type 3 (disorder) Finding site Eye structure false Inferred relationship Some 2
Waardenburg syndrome type 3 (disorder) Associated morphology Decreased melanin pigmentation false Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Is a Hereditary disorder of the integument false Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Is a Site-specific disorder of skin false Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Is a Congenital deficiency of pigment of skin false Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Is a Congenital malformation syndromes involving limbs false Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Finding site Musculoskeletal structure of limb false Inferred relationship Some 1
Waardenburg syndrome type 3 (disorder) Associated morphology Congenital malformation false Inferred relationship Some 1
Waardenburg syndrome type 3 (disorder) Associated morphology Congenital malformation false Inferred relationship Some 1
Waardenburg syndrome type 3 (disorder) Finding site Musculoskeletal structure of limb false Inferred relationship Some 1
Waardenburg syndrome type 3 (disorder) Occurrence Congenital true Inferred relationship Some 2
Waardenburg syndrome type 3 (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 2
Waardenburg syndrome type 3 (disorder) Finding site Musculoskeletal structure of limb false Inferred relationship Some 2
Waardenburg syndrome type 3 (disorder) Occurrence Congenital true Inferred relationship Some 1
Waardenburg syndrome type 3 (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Waardenburg syndrome type 3 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Waardenburg syndrome type 3 (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Is a Congenital anomaly of limb true Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Is a Congenital anomaly of musculoskeletal system false Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Is a Waardenburg syndrome true Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Interprets Hearing true Inferred relationship Some 4
Waardenburg syndrome type 3 (disorder) Has interpretation Decreased true Inferred relationship Some 4
Waardenburg syndrome type 3 (disorder) Finding site Skin structure true Inferred relationship Some 2
Waardenburg syndrome type 3 (disorder) Associated morphology Hypopigmentation true Inferred relationship Some 2
Waardenburg syndrome type 3 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Waardenburg syndrome type 3 (disorder) Finding site Limb structure true Inferred relationship Some 1
Waardenburg syndrome type 3 (disorder) Occurrence Congenital true Inferred relationship Some 3
Waardenburg syndrome type 3 (disorder) Is a Dystopia canthorum (disorder) true Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Occurrence Congenital true Inferred relationship Some 5
Waardenburg syndrome type 3 (disorder) Finding site Medial canthus structure true Inferred relationship Some 5
Waardenburg syndrome type 3 (disorder) Associated morphology Lateral displacement true Inferred relationship Some 5
Waardenburg syndrome type 3 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Waardenburg syndrome type 3 (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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