716006003: Bifid femur co-occurrent with monodactylous ectrodactyly (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Adactyly\Ectrodactyly\Gollop Wolfgang complex
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of thigh\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Gollop Wolfgang complex
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Gollop Wolfgang complex
\Finding of limb structure\Finding of lower limb\Finding of bone of lower limb\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Finding of limb structure\Finding of lower limb\Finding of thigh\Disorder of thigh\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of thigh\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex

\Musculoskeletal finding\Bone finding\Finding of bone of lower limb\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Gollop Wolfgang complex
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Gollop Wolfgang complex
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Gollop Wolfgang complex
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Gollop Wolfgang complex
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Gollop Wolfgang complex
\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 femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Adactyly\Ectrodactyly\Gollop Wolfgang complex
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of thigh\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Gollop Wolfgang complex
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Disease\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Gollop Wolfgang complex
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Gollop Wolfgang complex
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Gollop Wolfgang complex
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Disease\Developmental disorder\Developmental hereditary disorder\Gollop Wolfgang complex
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Gollop Wolfgang complex
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital abnormal shape of femur\Gollop Wolfgang complex
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Gollop Wolfgang complex

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3304392013 Bifid femur co-occurrent with monodactylous ectrodactyly (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3304393015 Bifid femur co-occurrent with monodactylous ectrodactyly en Synonym Active Case insensitive SNOMED CT core

3304394014 Gollop Wolfgang complex en Synonym Active Case sensitive SNOMED CT core

3304396011 Bifid femur with monodactylous ectrodactyly en Synonym Active Case insensitive SNOMED CT core

3304395010 A very rare malformation with main features of ectrodactyly of the hand and ipsilateral bifurcation of the femur. Approximately 200 cases have been reported worldwide. Congenital aplasia/hypoplasia of the tibia, accompanied by pre-axial oligodactyly or monodactyly of the feet, may also be present. In most cases, the bifurcation of the distal femur is unilateral. Patients are often small. Autosomal dominant and autosomal recessive modes of transmission have been suggested. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Gollop Wolfgang complex	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Gollop Wolfgang complex	Occurrence	Congenital	true	Inferred relationship	Some	1
Gollop Wolfgang complex	Associated morphology	Congenital notch	true	Inferred relationship	Some	1
Gollop Wolfgang complex	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Gollop Wolfgang complex	Associated morphology	Absence	true	Inferred relationship	Some	2
Gollop Wolfgang complex	Finding site	Structure of femur	true	Inferred relationship	Some	1
Gollop Wolfgang complex	Is a	Congenital abnormal shape of femur	true	Inferred relationship	Some
Gollop Wolfgang complex	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Gollop Wolfgang complex	Is a	Ectrodactyly	true	Inferred relationship	Some
Gollop Wolfgang complex	Is a	Congenital anomaly of femur	false	Inferred relationship	Some
Gollop Wolfgang complex	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Gollop Wolfgang complex	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Gollop Wolfgang complex	Occurrence	Congenital	true	Inferred relationship	Some	2
Gollop Wolfgang complex	Occurrence	Congenital	false	Inferred relationship	Some	3
Gollop Wolfgang complex	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Gollop Wolfgang complex	Finding site	Entire digit	true	Inferred relationship	Some	2
Gollop Wolfgang complex	Associated morphology	Congenital notch	false	Inferred relationship	Some	3
Gollop Wolfgang complex	Finding site	Bone structure of femur	false	Inferred relationship	Some	3

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
3304392013	Bifid femur co-occurrent with monodactylous ectrodactyly (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3304393015	Bifid femur co-occurrent with monodactylous ectrodactyly	en	Synonym	Active	Case insensitive	SNOMED CT core
3304394014	Gollop Wolfgang complex	en	Synonym	Active	Case sensitive	SNOMED CT core
3304396011	Bifid femur with monodactylous ectrodactyly	en	Synonym	Active	Case insensitive	SNOMED CT core
3304395010	A very rare malformation with main features of ectrodactyly of the hand and ipsilateral bifurcation of the femur. Approximately 200 cases have been reported worldwide. Congenital aplasia/hypoplasia of the tibia, accompanied by pre-axial oligodactyly or monodactyly of the feet, may also be present. In most cases, the bifurcation of the distal femur is unilateral. Patients are often small. Autosomal dominant and autosomal recessive modes of transmission have been suggested.	en	Definition	Active	Case sensitive	SNOMED CT core