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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour 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\Anomaly of eye\Lesion of eye\Coloboma of eye\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia\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\Coloboma of eye\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia\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\Coloboma of eye\Colobomatous microphthalmia\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\Colobomatous microphthalmia\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\Intellectual ability - finding\Intellectual disability\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\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\Anomaly of eye\Lesion of eye\Coloboma of eye\Colobomatous microphthalmia\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\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia\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\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia\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\Coloboma of eye\Colobomatous microphthalmia\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\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia\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\Coloboma of eye\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Colobomatous microphthalmia\X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Colobomatous microphthalmia\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, Primitive. 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	Active	Case sensitive	SNOMED CT core
3704574012	X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3704575013	X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start