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

\Disorder of head\Disorder of eye region\Disorder of eye\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\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\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\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 anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Colobomatous microphthalmia, rhizomelic dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3655694011 Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3655695012 Colobomatous microphthalmia, rhizomelic dysplasia syndrome en Synonym Active Case insensitive SNOMED CT core

3655696013 Microphthalmia, coloboma, rhizomelic skeletal dysplasia en Synonym Active Case insensitive SNOMED CT core

3655697016 A rare genetic developmental defect during embryogenesis with characteristics of a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3655694011	Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3655695012	Colobomatous microphthalmia, rhizomelic dysplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3655696013	Microphthalmia, coloboma, rhizomelic skeletal dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3655697016	A rare genetic developmental defect during embryogenesis with characteristics of a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.	en	Definition	Active	Case sensitive	SNOMED CT core