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

SNOMED CT Concept\Clinical finding\...

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

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

\Finding of head and neck region\Head finding\...

\Finding of head circumference\Microcephaly\Congenital microcephaly\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome

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

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

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

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

\General finding of observation of patient\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

\Finding of head circumference\Microcephaly\Congenital microcephaly\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome

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

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

Descriptions:

Id Description Lang Type Status Case? Module

3704381016 X-linked colobomatous microphthalmia, microcephaly, short stature, psychomotor retardation syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3704574012 X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3704575013 X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3704381016	X-linked colobomatous microphthalmia, microcephaly, short stature, psychomotor retardation syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3704574012	X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3704575013	X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module