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70348004: Pendred's syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
116846019 Pendred's syndrome en Synonym Active Case sensitive SNOMED CT core
116847011 Hypothyroidism with sensorineural deafness en Synonym Active Case insensitive SNOMED CT core
116848018 Thyroid hormone organification defect II B en Synonym Active Initial character case insensitive SNOMED CT core
116849014 Goiter-deafness syndrome en Synonym Active Case insensitive SNOMED CT core
116850014 Genetic defect in thyroid hormonogenesis II B en Synonym Active Initial character case insensitive SNOMED CT core
116851013 GDTH IIB en Synonym Active Case sensitive SNOMED CT core
116852018 Goitre-deafness syndrome en Synonym Active Case insensitive SNOMED CT core
1233257013 Pendred syndrome en Synonym Active Case sensitive SNOMED CT core
810394014 Pendred's syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pendred's syndrome Occurrence Congenital false Inferred relationship Some 2
Pendred's syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Pendred's syndrome Is a Euthyroid goitre false Inferred relationship Some
Pendred's syndrome Is a Congenital sensorineural hearing loss true Inferred relationship Some
Pendred's syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Pendred's syndrome Finding site Entire thyroid gland false Inferred relationship Some 1
Pendred's syndrome Associated morphology Enlargement false Inferred relationship Some 1
Pendred's syndrome Interprets Hearing true Inferred relationship Some 3
Pendred's syndrome Finding site Structure of auditory system false Inferred relationship Some 2
Pendred's syndrome Is a Goitre true Inferred relationship Some
Pendred's syndrome Is a Congenital anomaly of ear with impairment of hearing true Inferred relationship Some
Pendred's syndrome Associated morphology Developmental abnormality false Inferred relationship Some 1
Pendred's syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Pendred's syndrome Occurrence Congenital true Inferred relationship Some 4
Pendred's syndrome Finding site Thyroid structure true Inferred relationship Some 4
Pendred's syndrome Finding site Vestibular apparatus true Inferred relationship Some 1
Pendred's syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Pendred's syndrome Is a Congenital anomaly of vestibule of inner ear true Inferred relationship Some
Pendred's syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Pendred's syndrome Occurrence Congenital false Inferred relationship Some
Pendred's syndrome Is a Dyshormonogenic goitre false Inferred relationship Some
Pendred's syndrome Is a Inherited disorder of thyroid metabolism true Inferred relationship Some
Pendred's syndrome Associated morphology Hyperplasia false Inferred relationship Some 1
Pendred's syndrome Finding site Thyroid structure false Inferred relationship Some 1
Pendred's syndrome Associated morphology Hyperplasia false Inferred relationship Some 1
Pendred's syndrome Associated morphology Enlargement true Inferred relationship Some 2
Pendred's syndrome Finding site Entire thyroid gland true Inferred relationship Some 2
Pendred's syndrome Occurrence Congenital true Inferred relationship Some 1
Pendred's syndrome Finding site Entire endocrine gonad false Inferred relationship Some
Pendred's syndrome Finding site Thyroid structure false Inferred relationship Some 1

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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