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733069009: Deafness, vitiligo, achalasia syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498670013 Deafness, vitiligo, achalasia syndrome en Synonym Active Case insensitive SNOMED CT core
3498671012 Deafness, vitiligo, achalasia syndrome (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deafness, vitiligo, achalasia syndrome Occurrence Congenital true Inferred relationship Some 1
Deafness, vitiligo, achalasia syndrome Finding site Inner ear structure true Inferred relationship Some 2
Deafness, vitiligo, achalasia syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Deafness, vitiligo, achalasia syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Deafness, vitiligo, achalasia syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Deafness, vitiligo, achalasia syndrome Pathological process 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 Cardio-oesophageal 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
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 true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a Congenital achalasia of oesophagus true Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a Genetic disorder of skin pigmentation 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 Cardio-oesophageal 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 true Inferred relationship Some 4
Deafness, vitiligo, achalasia syndrome Associated morphology Developmental abnormality false Inferred relationship Some 7
Deafness, vitiligo, achalasia syndrome Finding site Inner ear structure false Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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