771264005: Absent radius, anogenital anomalies syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital anomaly of radius\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Finding of limb structure\Finding of upper limb\Absence of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Finding of limb structure\Finding of upper limb\Absence of upper limb\Absence of bone of upper limb\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Absence of bone of upper limb\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of radius\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of forearm\Congenital anomaly of radius\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital absence of radius\Absent radius, anogenital anomalies syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Congenital anomaly of perineum\Absent radius, anogenital anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Absent radius, anogenital anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Congenital anomaly of perineum\Absent radius, anogenital anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Perineal finding\Disorder of perineum\Congenital anomaly of perineum\Absent radius, anogenital anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Congenital anomaly of perineum\Absent radius, anogenital anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Absent radius, anogenital anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Absent radius, anogenital anomalies syndrome

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Absence of bone of upper limb\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Congenital anomaly of radius\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Musculoskeletal finding\Bone finding\Bone absent\Absence of bone of upper limb\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Musculoskeletal finding\Bone finding\Bone absent\Congenital absence of skeletal bone\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Absent radius, anogenital anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Absent radius, anogenital anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Absent radius, anogenital anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of radius\Absent radius, anogenital anomalies 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\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Absent radius, anogenital anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Absent radius, anogenital anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Absent radius, anogenital anomalies syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Absent radius, anogenital anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Absent radius, anogenital anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Absent radius, anogenital anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Absent radius, anogenital anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Absent radius, anogenital anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Absent radius, anogenital anomalies 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 absence of skeletal bone\Congenital absence of radius\Absent radius, anogenital anomalies 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\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Absent radius, anogenital anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Absent radius, anogenital anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Absent radius, anogenital anomalies syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital anomaly of radius\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Congenital anomaly of perineum\Absent radius, anogenital anomalies syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Absent radius, anogenital anomalies syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Absent radius, anogenital anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Absent radius, anogenital anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Absent radius, anogenital anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Absent radius, anogenital anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Absent radius, anogenital anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Absent radius, anogenital anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Absent radius, anogenital anomalies syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Absent radius, anogenital anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Absent radius, anogenital anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Absent radius, anogenital anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Absent radius, anogenital anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Absent radius, anogenital anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Absent radius, anogenital anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital absence of radius\Absent radius, anogenital anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of radius\Absent radius, anogenital anomalies syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3705345010 Absent radius, anogenital anomalies syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3705346011 Absent radius, anogenital anomalies syndrome en Synonym Active Case insensitive SNOMED CT core

3705344014 A rare genetic limb reduction defects syndrome with characteristics of bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (for example hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Absent radius, anogenital anomalies syndrome	Finding site	Perineal structure	true	Inferred relationship	Some	2
Absent radius, anogenital anomalies syndrome	Associated morphology	Aplasia	true	Inferred relationship	Some	3
Absent radius, anogenital anomalies syndrome	Finding site	Bone structure of radius	true	Inferred relationship	Some	3
Absent radius, anogenital anomalies syndrome	Finding site	Bone structure of extremity	true	Inferred relationship	Some	1
Absent radius, anogenital anomalies syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Absent radius, anogenital anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Absent radius, anogenital anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Absent radius, anogenital anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Absent radius, anogenital anomalies syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Absent radius, anogenital anomalies syndrome	Is a	Absence of bone of upper limb	false	Inferred relationship	Some
Absent radius, anogenital anomalies syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Absent radius, anogenital anomalies syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Absent radius, anogenital anomalies syndrome	Is a	Congenital absence of radius	true	Inferred relationship	Some
Absent radius, anogenital anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Absent radius, anogenital anomalies syndrome	Is a	Congenital anomaly of perineum	true	Inferred relationship	Some
Absent radius, anogenital anomalies syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Absent radius, anogenital anomalies syndrome	Is a	Congenital anomaly of radius	false	Inferred relationship	Some
Absent radius, anogenital anomalies syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Absent radius, anogenital anomalies syndrome	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Absent radius, anogenital anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Absent radius, anogenital anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Absent radius, anogenital anomalies syndrome	Is a	Dysostosis	true	Inferred relationship	Some

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
3705345010	Absent radius, anogenital anomalies syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3705346011	Absent radius, anogenital anomalies syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3705344014	A rare genetic limb reduction defects syndrome with characteristics of bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (for example hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.	en	Definition	Active	Case sensitive	SNOMED CT core