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719098007: Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5401952016 Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401953014 Brain-lung-thyroid syndrome is a rare disorder characterised by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314977013 Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314978015 Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314979011 Brain lung thyroid 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
Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea. Is a Autosomal dominant hereditary disorder true 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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