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716239006: Hearing loss and salivary gland insensitivity to aldosterone syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5401279010 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401280013 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatraemia. It has been described in two brothers. Transmission appeared to be autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305200019 Tungland Bellman syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305203017 Hearing loss and salivary gland insensitivity to aldosterone syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305204011 Hearing loss and salivary gland insensitivity to aldosterone syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. Is a Disorder of salivary gland true Inferred relationship Some
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. Is a Sensorineural hearing loss true Inferred relationship Some
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. Is a Auditory system hereditary disorder true Inferred relationship Some
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. Is a Digestive system hereditary disorder true Inferred relationship Some
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. Finding site Structure of auditory system (body structure) true Inferred relationship Some 2
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. Finding site Salivary gland structure (body structure) true Inferred relationship Some 1
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. Interprets Hearing true Inferred relationship Some 3
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. Interprets træk vedr. funktion false 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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