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733069009: Deafness, vitiligo, achalasia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5403710012 Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403711011 Deafness-vitiligo-achalasia syndrome is characterised by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498670013 Deafness, vitiligo, achalasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498671012 Deafness, vitiligo, achalasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5846251000241116 syndrome de surdité, vitiligo et achalasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3430561001000112 Schwerhörigkeit - Vitiligo - Achalasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Is a Congenital deficiency of pigment of skin true Inferred relationship Some
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Is a Vitiligo true Inferred relationship Some
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Is a Multiple system malformation syndrome true Inferred relationship Some
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Is a Congenital deafness true Inferred relationship Some
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Is a Hearing loss associated with syndrome true Inferred relationship Some
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Is a Short stature disorder true Inferred relationship Some
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Is a Auditory system hereditary disorder true Inferred relationship Some
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Is a Digestive system hereditary disorder true Inferred relationship Some
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Is a Congenital achalasia of esophagus true Inferred relationship Some
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Is a Genetic disorder of skin pigmentation (disorder) true Inferred relationship Some
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Occurrence Congenital true Inferred relationship Some 3
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Occurrence Congenital false Inferred relationship Some 5
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Finding site Skin structure true Inferred relationship Some 3
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Finding site Cardioesophageal junction structure false Inferred relationship Some 5
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Occurrence Congenital false Inferred relationship Some 6
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Occurrence Congenital false Inferred relationship Some 7
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Associated morphology Congenital hypopigmentation false Inferred relationship Some 6
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Finding site Skin structure false Inferred relationship Some 6
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Finding site Oesophageal structure false Inferred relationship Some 4
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Has interpretation Abnormal true Inferred relationship Some 4
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Interprets Motility (observable entity) true Inferred relationship Some 4
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Associated morphology anomalie du développement false Inferred relationship Some 7
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Finding site Inner ear structure false Inferred relationship Some 7
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Occurrence Congenital true Inferred relationship Some 1
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Finding site Inner ear structure true Inferred relationship Some 2
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Occurrence Congenital true Inferred relationship Some 2
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Finding site Cardioesophageal junction structure true Inferred relationship Some 1
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Associated morphology Hypopigmentation true Inferred relationship Some 3
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Is a Congenital anomaly of ear with impairment of hearing true Inferred relationship Some
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Is a Congenital anomaly of inner ear true Inferred relationship Some
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Interprets Hearing true Inferred relationship Some 5
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Is a Developmental hereditary disorder true Inferred relationship Some
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Interprets Height / growth measure true Inferred relationship Some 6
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Is a Hereditary disorder of the integument true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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