771148008: syndrome de micropthalmie colobomateuse-microcéphalie-déficience intellectuelle-petite taille liée à l'X (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\Coloboma of eye\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\Coloboma of eye\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\...
• \Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (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
3704381016	X-linked colobomatous microphthalmia, microcephaly, short stature, psychomotor retardation syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3704574012	X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3704575013	X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
770251000241115	syndrome de micropthalmie colobomateuse-microcéphalie-déficience intellectuelle-petite taille 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)
953021000172113	syndrome de micropthalmie colobomateuse-microcéphalie-déficience intellectuelle-petite taille 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)
979111000172117	syndrome de micropthalmie colobomateuse, microcéphalie, petite taille, retard psychomoteur 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)
3704382011	A rare syndromic microphthalmia disorder with characteristics of microphthalmia with coloboma (which may involve the iris, ciliary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start