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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
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
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
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
3430561001000112 Schwerhörigkeit - Vitiligo - Achalasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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 a Congenital deficiency of pigment of skin true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome Is a Vitiligo true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome Is a Congenital deafness true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome Is a Congenital achalasia of esophagus true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome Is a Genetic disorder of skin pigmentation (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Deafness, vitiligo, achalasia syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Deafness, vitiligo, achalasia syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Deafness, vitiligo, achalasia syndrome Finding site Cardioesophageal junction structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Deafness, vitiligo, achalasia syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Deafness, vitiligo, achalasia syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Deafness, vitiligo, achalasia syndrome Associated morphology Congenital hypopigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 6
Deafness, vitiligo, achalasia syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Deafness, vitiligo, achalasia syndrome Finding site Oesophageal structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Deafness, vitiligo, achalasia syndrome Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 4
Deafness, vitiligo, achalasia syndrome Interprets Motility (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Deafness, vitiligo, achalasia syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 7
Deafness, vitiligo, achalasia syndrome Finding site Inner ear structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Deafness, vitiligo, achalasia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deafness, vitiligo, achalasia syndrome Finding site Inner ear structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deafness, vitiligo, achalasia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deafness, vitiligo, achalasia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deafness, vitiligo, achalasia syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deafness, vitiligo, achalasia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Deafness, vitiligo, achalasia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deafness, vitiligo, achalasia syndrome Finding site Cardioesophageal junction structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deafness, vitiligo, achalasia syndrome Associated morphology Hypopigmentation true Inferred relationship Existential restriction modifier (core metadata concept) 3
Deafness, vitiligo, achalasia syndrome Is a Congenital anomaly of ear with impairment of hearing true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome Is a Congenital anomaly of inner ear true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 5
Deafness, vitiligo, achalasia syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Deafness, vitiligo, achalasia syndrome Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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