764942005: Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome

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

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome

\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Colobomatous microphthalmia, rhizomelic dysplasia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3655694011 Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3655695012 Colobomatous microphthalmia, rhizomelic dysplasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3655696013 Microphthalmia, coloboma, rhizomelic skeletal dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Is a	Autosomal hereditary disorder	true	Inferred relationship	Existential restriction modifier
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Is a	Congenital anomaly of eye	true	Inferred relationship	Existential restriction modifier
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Is a	Mesomelic dysplasia	true	Inferred relationship	Existential restriction modifier
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Is a	Short stature disorder	false	Inferred relationship	Existential restriction modifier
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	2
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Finding site	Structure of eye proper	true	Inferred relationship	Existential restriction modifier	1
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	3
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Colobomatous microphthalmia, rhizomelic dysplasia syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	4

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
3655694011	Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3655695012	Colobomatous microphthalmia, rhizomelic dysplasia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3655696013	Microphthalmia, coloboma, rhizomelic skeletal dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module