SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/771510006
http://purl.bioontology.org/ontology/SNOMEDCT/771510006
Preferred Name

X-linked central congenital hypothyroidism with late-onset testicular enlargement

Definitions
A rare genetic endocrine disease with characteristics of central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency. Caused by mutation in the IGSF1 gene on chromosome Xq26.
Synonyms
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
X-linked central congenital hypothyroidism with late-onset macroorchidism
IGSF1 (immunoglobulin superfamily member 1) deficiency syndrome
Type http://www.w3.org/2002/07/owl#Class
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ICD-10-CM 2018     ICD-10-CM 2018 false Certified+Professional+Coder+ Comment http://purl.bioontology.org/ontology/SNOMEDCT/40068008 2018-06-08
Surgical specialty should be surgury?     Surgical specialty should be surgury? false jimmccusker Comment http://purl.bioontology.org/ontology/SNOMEDCT/394732004 2012-09-26
SNOMEDCT     SNOMEDCT false kotharu Comment http://purl.bioontology.org/ontology/SNOMEDCT/123037004 2012-04-17
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