771510006: hypothyroïdie congénitale centrale avec macroorchidie tardive liée à l'X (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Disorder of testis\Hypertrophy of testis\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Disorder of testis\Hypertrophy of testis\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Disorder of testis\Hypertrophy of testis\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Male genitalia finding\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Disorder of testis\Hypertrophy of testis\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Male genitalia finding\Testicular finding\Disorder of testis\Hypertrophy of testis\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Male genitalia finding\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Disorder of testis\Hypertrophy of testis\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Male genitalia finding\Testicular finding\Disorder of testis\Hypertrophy of testis\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Disorder of testis\Hypertrophy of testis\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Disorder of testis\Hypertrophy of testis\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Disorder of testis\Hypertrophy of testis\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)

\constatation à propos d'une région de la tête et du cou\Finding of neck region\...

\Finding of thyroid gland\affection de la glande thyroïde (trouble)\hypothyroïdie\hypothyroïdie centrale\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)

\affection du cou\affection de la glande thyroïde (trouble)\hypothyroïdie\hypothyroïdie centrale\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Reproductive system hereditary disorder\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Reproductive system hereditary disorder\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\affection de la glande thyroïde (trouble)\hypothyroïdie\hypothyroïdie centrale\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Disorder of testis\Hypertrophy of testis\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Disorder of testis\Hypertrophy of testis\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ (disorder)\Disorder of testis\Hypertrophy of testis\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
\Disease\affection du cou\affection de la glande thyroïde (trouble)\hypothyroïdie\hypothyroïdie centrale\X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3706553013 X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3706554019 IGSF1 (immunoglobulin superfamily member 1) deficiency syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3706555018 X-linked central congenital hypothyroidism with late-onset macroorchidism en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3706556017 X-linked central congenital hypothyroidism with late-onset testicular enlargement en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

770821000241113 hypothyroïdie congénitale centrale avec macroorchidie tardive liée à l'X (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

895481000172117 hypothyroïdie congénitale centrale avec macroorchidie tardive liée à l'X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

955521000172117 syndrome par déficit en IGSF1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3706557014 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)	morphologie associée (attribut)	hypertrophie	true	Inferred relationship	Some	1
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)	localisation d'une constatation (attribut)	structure de la thyroïde	true	Inferred relationship	Some	2
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)	est un(e) (attribut)	Reproductive system hereditary disorder	true	Inferred relationship	Some
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)	survenue (attribut)	adolescence	true	Inferred relationship	Some	1
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)	est un(e) (attribut)	hypothyroïdie centrale	true	Inferred relationship	Some
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)	localisation d'une constatation (attribut)	testicule (structure corporelle)	true	Inferred relationship	Some	1
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)	est un(e) (attribut)	Hypertrophy of testis	true	Inferred relationship	Some
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)	est un(e) (attribut)	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3706553013	X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706554019	IGSF1 (immunoglobulin superfamily member 1) deficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706555018	X-linked central congenital hypothyroidism with late-onset macroorchidism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706556017	X-linked central congenital hypothyroidism with late-onset testicular enlargement	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
770821000241113	hypothyroïdie congénitale centrale avec macroorchidie tardive liée à l'X (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
895481000172117	hypothyroïdie congénitale centrale avec macroorchidie tardive liée à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
955521000172117	syndrome par déficit en IGSF1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3706557014	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core