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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
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
3499957010 Syndrome with the association of congenital deafness, short stature, vitiligo, muscle wasting, and achalasia. It has been described in a brother and his sister born to first-cousin parents. It is likely to be transmitted as an autosomal recessive trait. 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
Deafness, vitiligo, achalasia syndrome Is a Congenital deficiency of pigment of skin true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a Vitiligo true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a Congenital deafness true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a Hearing loss associated with syndrome true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a Short stature disorder true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a Congenital achalasia of esophagus true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a Genetic disorder of skin pigmentation (disorder) true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Occurrence Congenital true Inferred relationship Some 3
Deafness, vitiligo, achalasia syndrome Occurrence Congenital false Inferred relationship Some 5
Deafness, vitiligo, achalasia syndrome Finding site Skin structure true Inferred relationship Some 3
Deafness, vitiligo, achalasia syndrome Finding site Cardioesophageal junction structure false Inferred relationship Some 5
Deafness, vitiligo, achalasia syndrome Occurrence Congenital false Inferred relationship Some 6
Deafness, vitiligo, achalasia syndrome Occurrence Congenital false Inferred relationship Some 7
Deafness, vitiligo, achalasia syndrome Associated morphology Congenital hypopigmentation false Inferred relationship Some 6
Deafness, vitiligo, achalasia syndrome Finding site Skin structure false Inferred relationship Some 6
Deafness, vitiligo, achalasia syndrome Finding site Oesophageal structure false Inferred relationship Some 4
Deafness, vitiligo, achalasia syndrome Has interpretation Abnormal true Inferred relationship Some 4
Deafness, vitiligo, achalasia syndrome Interprets Motility (observable entity) true Inferred relationship Some 4
Deafness, vitiligo, achalasia syndrome Associated morphology Developmental anomaly false Inferred relationship Some 7
Deafness, vitiligo, achalasia syndrome Finding site Inner ear structure (body structure) false Inferred relationship Some 7
Deafness, vitiligo, achalasia syndrome Occurrence Congenital true Inferred relationship Some 1
Deafness, vitiligo, achalasia syndrome Finding site Inner ear structure (body structure) true Inferred relationship Some 2
Deafness, vitiligo, achalasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Deafness, vitiligo, achalasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Deafness, vitiligo, achalasia syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Deafness, vitiligo, achalasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Deafness, vitiligo, achalasia syndrome Occurrence Congenital true Inferred relationship Some 2
Deafness, vitiligo, achalasia syndrome Finding site Cardioesophageal junction structure true Inferred relationship Some 1
Deafness, vitiligo, achalasia syndrome Associated morphology Hypopigmentation true Inferred relationship Some 3
Deafness, vitiligo, achalasia syndrome Is a Congenital anomaly of ear with impairment of hearing true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a Congenital anomaly of inner ear true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Interprets Hearing true Inferred relationship Some 5
Deafness, vitiligo, achalasia syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Interprets Height / growth measure true Inferred relationship Some 6
Deafness, vitiligo, achalasia syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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