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718183003: Familial thyroid dyshormonogenesis (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
3311173012 Familial thyroid dyshormonogenesis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311174018 Familial thyroid dyshormonogenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401703011 Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3311173012 Familial thyroid dyshormonogenesis (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311173012 Familial thyroid dyshormonogenesis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311174018 Familial thyroid dyshormonogenesis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311174018 Familial thyroid dyshormonogenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311411012 A type of primary congenital hypothyroidism a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Clinical manifestations are those of other forms of congenital hypothyroidism. In addition to features of hypothyroidism, patients can present with goiter. Caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3311412017 A type of primary congenital hypothyroidism a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Clinical manifestations are those of other forms of congenital hypothyroidism. In addition to features of hypothyroidism, patients can present with goitre. Caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401703011 Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3393071001000119 Schilddrüsen-Dyshormonogenese, familiäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
915581000172112 hypothyroïdie familiale par anomalie de l'hormonosynthèse thyroïdienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1004421000172118 dyshormonosynthèse thyroïdienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
915581000172112 hypothyroïdie familiale par anomalie de l'hormonosynthèse thyroïdienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1004421000172118 dyshormonosynthèse thyroïdienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393071001000119 Schilddrüsen-Dyshormonogenese, familiäre 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
Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Is a Congenital hypothyroidism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Finding site Thyroid structure false Inferred relationship Existential restriction modifier (core metadata concept)
Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Finding site Thyroid structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Is a Disorder with characteristics of high serum thyroid-stimulating hormone (TSH) concentration and a low serum free thyroxine (T4) concentration. 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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