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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 survenue (attribut) congénital true Inferred relationship Some 1
Deafness, vitiligo, achalasia syndrome localisation d'une constatation (attribut) structure de l'oreille interne (structure corporelle) 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 morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Deafness, vitiligo, achalasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Deafness, vitiligo, achalasia syndrome survenue (attribut) congénital true Inferred relationship Some 2
Deafness, vitiligo, achalasia syndrome localisation d'une constatation (attribut) Cardio-oesophageal junction structure true Inferred relationship Some 1
Deafness, vitiligo, achalasia syndrome morphologie associée (attribut) Hypopigmentation true Inferred relationship Some 3
Deafness, vitiligo, achalasia syndrome est un(e) (attribut) Congenital anomaly of ear with impairment of hearing true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome est un(e) (attribut) Congenital anomaly of inner ear true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 5
Deafness, vitiligo, achalasia syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome interprète (attribut) Height / growth measure true Inferred relationship Some 6
Deafness, vitiligo, achalasia syndrome est un(e) (attribut) Congenital deficiency of pigment of skin true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome est un(e) (attribut) vitiligo true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome est un(e) (attribut) Congenital deafness true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome est un(e) (attribut) Hearing loss associated with syndrome true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome est un(e) (attribut) insuffisance staturale true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome est un(e) (attribut) Congenital achalasia of esophagus true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome est un(e) (attribut) Genetic disorder of skin pigmentation (disorder) true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome survenue (attribut) congénital true Inferred relationship Some 3
Deafness, vitiligo, achalasia syndrome survenue (attribut) congénital false Inferred relationship Some 5
Deafness, vitiligo, achalasia syndrome localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 3
Deafness, vitiligo, achalasia syndrome localisation d'une constatation (attribut) Cardio-oesophageal junction structure false Inferred relationship Some 5
Deafness, vitiligo, achalasia syndrome survenue (attribut) congénital false Inferred relationship Some 6
Deafness, vitiligo, achalasia syndrome survenue (attribut) congénital false Inferred relationship Some 7
Deafness, vitiligo, achalasia syndrome morphologie associée (attribut) Congenital hypopigmentation false Inferred relationship Some 6
Deafness, vitiligo, achalasia syndrome localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 6
Deafness, vitiligo, achalasia syndrome localisation d'une constatation (attribut) œsophage (structure corporelle) false Inferred relationship Some 4
Deafness, vitiligo, achalasia syndrome a pour interprétation (attribut) anormal true Inferred relationship Some 4
Deafness, vitiligo, achalasia syndrome interprète (attribut) Motility (observable entity) true Inferred relationship Some 4
Deafness, vitiligo, achalasia syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 7
Deafness, vitiligo, achalasia syndrome localisation d'une constatation (attribut) structure de l'oreille interne (structure corporelle) false Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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