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718194004: Hypothyroidism due to mutation in transcription factor of pituitary development (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
3311456017 Hypothyroidism due to mutation in transcription factor of pituitary development (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311457014 Hypothyroidism due to mutation in transcription factor of pituitary development en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401710017 Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401711018 Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterised by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3311456017 Hypothyroidism due to mutation in transcription factor of pituitary development (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311456017 Hypothyroidism due to mutation in transcription factor of pituitary development (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311457014 Hypothyroidism due to mutation in transcription factor of pituitary development en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311457014 Hypothyroidism due to mutation in transcription factor of pituitary development en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311458016 A permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. The clinical manifestations can be subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. Goiter is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment hypothyroidism results in severe intellectual deficit and short stature. The hypothyroidism is caused by mutations in genes regulating pituitary gland development including HESX1, LHX3, LHX4, POU1F1 and PROP1 (3p21.2-p21.1, 9q34.3, 1q25, 3p11 and 5q). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3311459012 A permanent thyroid deficiency that is present from birth, characterised by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. The clinical manifestations can be subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. Goitre is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment hypothyroidism results in severe intellectual deficit and short stature. The hypothyroidism is caused by mutations in genes regulating pituitary gland development including HESX1, LHX3, LHX4, POU1F1 and PROP1 (3p21.2-p21.1, 9q34.3, 1q25, 3p11 and 5q). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401710017 Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401711018 Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterised by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3411751001000118 Hypothyreose durch Mangel von Transkriptionsfaktoren zur Entwicklung oder Funktion der Hypophyse de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6285781000241113 hypothyroïdie due à une mutation du facteur de transcription du développement hypophysaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6285791000241110 hypothyroïdie due à une mutation du facteur de transcription du développement de l'hypophyse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6285801000241114 hypothyroïdie due à une mutation du facteur de transcription du développement de la glande pituitaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6285781000241113 hypothyroïdie due à une mutation du facteur de transcription du développement hypophysaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6285791000241110 hypothyroïdie due à une mutation du facteur de transcription du développement de l'hypophyse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6285801000241114 hypothyroïdie due à une mutation du facteur de transcription du développement de la glande pituitaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3411751001000118 Hypothyreose durch Mangel von Transkriptionsfaktoren zur Entwicklung oder Funktion der Hypophyse 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
Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. Due to Congenital anomaly of pituitary gland true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. Is a Congenital hypothyroidism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. Finding site Thyroid structure false Inferred relationship Existential restriction modifier (core metadata concept)
Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. Finding site Thyroid structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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