720415006: Acrorenoocular syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy\Acrorenoocular syndrome

\Congenital anomaly of the kidney\Acrorenoocular syndrome

\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital anomaly of radius\Acrorenoocular syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Acrorenoocular syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Acrorenoocular syndrome
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of radius\Acrorenoocular syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of forearm\Congenital anomaly of radius\Acrorenoocular syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Acrorenoocular 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\Acrorenoocular syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Acrorenoocular syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Acrorenoocular syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Acrorenoocular syndrome

\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Acrorenoocular syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Acrorenoocular syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Acrorenoocular syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Acrorenoocular syndrome

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Congenital anomaly of radius\Acrorenoocular syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Acrorenoocular syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Acrorenoocular syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Acrorenoocular syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Acrorenoocular syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Acrorenoocular syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Acrorenoocular syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrorenoocular syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Acrorenoocular syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Acrorenoocular syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Acrorenoocular syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Acrorenoocular syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrorenoocular syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Acrorenoocular syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Acrorenoocular syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Acrorenoocular syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Acrorenoocular syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Acrorenoocular syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Acrorenoocular syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Acrorenoocular syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Acrorenoocular syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital anomaly of radius\Acrorenoocular syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Acrorenoocular syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Acrorenoocular syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Acrorenoocular syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Acrorenoocular syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Acrorenoocular syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Acrorenoocular syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Acrorenoocular syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrorenoocular syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Acrorenoocular syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Acrorenoocular syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Acrorenoocular syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Acrorenoocular syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Acrorenoocular syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Acrorenoocular syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrorenoocular syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Acrorenoocular syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Acrorenoocular syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Acrorenoocular syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Acrorenoocular syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Acrorenoocular syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3320684011 Acrorenoocular syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3320685012 Acrorenoocular syndrome en Synonym Active Case insensitive SNOMED CT core

3320686013 Acro-renal-ocular syndrome en Synonym Active Case insensitive SNOMED CT core

3320687016 A syndrome of multiple congenital anomalies with characteristics of radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula) and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis and Duane anomaly).The phenotype overlaps with related disorders including Okihiro syndrome and Holt-Oram syndrome. Transmission is autosomal dominant. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrorenoocular syndrome	Finding site	Kidney structure	true	Inferred relationship	Some	2
Acrorenoocular syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Acrorenoocular syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Acrorenoocular syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Acrorenoocular syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Acrorenoocular syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Acrorenoocular syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Acrorenoocular syndrome	Finding site	Bone structure of radius	true	Inferred relationship	Some	1
Acrorenoocular syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Acrorenoocular syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Acrorenoocular syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Acrorenoocular syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Acrorenoocular syndrome	Is a	Congenital anomaly of eye	true	Inferred relationship	Some
Acrorenoocular syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Acrorenoocular syndrome	Is a	Congenital anomaly of the kidney	true	Inferred relationship	Some
Acrorenoocular syndrome	Is a	Congenital anomaly of radius	true	Inferred relationship	Some
Acrorenoocular syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Acrorenoocular syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Acrorenoocular syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Acrorenoocular syndrome	Is a	Hereditary nephropathy	true	Inferred relationship	Some
Acrorenoocular syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Acrorenoocular syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Acrorenoocular syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Acrorenoocular syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Acrorenoocular syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Acrorenoocular syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Acrorenoocular syndrome	Finding site	Eye structure	false	Inferred relationship	Some	5
Acrorenoocular syndrome	Finding site	Kidney structure	false	Inferred relationship	Some	3
Acrorenoocular syndrome	Finding site	Eye structure	true	Inferred relationship	Some	3
Acrorenoocular syndrome	Finding site	Bone structure of radius	false	Inferred relationship	Some	4

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
3320684011	Acrorenoocular syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3320685012	Acrorenoocular syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3320686013	Acro-renal-ocular syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3320687016	A syndrome of multiple congenital anomalies with characteristics of radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula) and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis and Duane anomaly).The phenotype overlaps with related disorders including Okihiro syndrome and Holt-Oram syndrome. Transmission is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core