771148008: X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)

\Finding of head and neck region\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)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\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\Congenital ocular coloboma (disorder)\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\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Finding of head region\Globe finding\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)

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disorder of head (disorder)\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)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disorder of head (disorder)\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)

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Eye / vision finding\Globe finding\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)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Eye / vision finding\Visual system disorder\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)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Eye / vision finding\Visual system disorder\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)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Disorder of sensory organ (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\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\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\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\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\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\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\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Disorder of head (disorder)\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\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Disorder of head (disorder)\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\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Congenital disease (disorder)\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 (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Congenital disease (disorder)\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\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Developmental disorder\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\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)
\Disease\Developmental disorder\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\Developmental disorder\Disorder of stature\Short stature disorder\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

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

953021000172113 syndrome de micropthalmie colobomateuse-microcéphalie-déficience intellectuelle-petite taille liée à l'X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

979111000172117 syndrome de micropthalmie colobomateuse, microcéphalie, petite taille, retard psychomoteur liée à l'X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

954651000172113 X-gebonden colobomateuze microftalmie, microcefalie, kleine gestalte, psychomotorische achterstand-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

998531000172117 X-gebonden colobomateuze microftalmie, microcefalie, intellectuele achterstand, kleine gestalte-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Associated morphology	Congenital smallness	true	Inferred relationship	Some	3
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Finding site	Entire eye	true	Inferred relationship	Some	3
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Is a	Short stature disorder	true	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Finding site	Eye structure	true	Inferred relationship	Some	1
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	2
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	2
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Is a	microcéphalie	false	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Is a	Microphthalmos co-occurrent with congenital ocular coloboma (disorder)	true	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	4
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	2
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6

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
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
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
953021000172113	syndrome de micropthalmie colobomateuse-microcéphalie-déficience intellectuelle-petite taille liée à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
979111000172117	syndrome de micropthalmie colobomateuse, microcéphalie, petite taille, retard psychomoteur liée à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
954651000172113	X-gebonden colobomateuze microftalmie, microcefalie, kleine gestalte, psychomotorische achterstand-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
998531000172117	X-gebonden colobomateuze microftalmie, microcefalie, intellectuele achterstand, kleine gestalte-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)