721296004: Fuhrmann syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Fuhrmann syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Fuhrmann syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Fuhrmann syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Fuhrmann syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Fuhrmann syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Fuhrmann syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Fuhrmann syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fuhrmann syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Fuhrmann syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fuhrmann syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fuhrmann syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Fuhrmann syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Fuhrmann 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\Fuhrmann syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Fuhrmann syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Fuhrmann syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Fuhrmann syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Fuhrmann syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Fuhrmann syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Fuhrmann syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Fuhrmann syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Fuhrmann syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Fuhrmann syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Fuhrmann syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Fuhrmann syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Fuhrmann syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Fuhrmann syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3324896012 Fuhrmann syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3324897015 Fuhrmann syndrome en Synonym Active Case sensitive SNOMED CT core

3324898013 Fuhrmann Rieger de Sousa syndrome en Synonym Active Case sensitive SNOMED CT core

3324899017 This syndrome has main characteristics of bowing of the femora, aplasia or hypoplasia of the fibulae and poly, oligo and syndactyly. It has been reported in 11 patients. Most of the patients also had a hypoplastic pelvis and hypoplasia of the fingers and fingernails. Some had congenital dislocation of the hip, absence or fusion of tarsal bones, absence of various metatarsals and hypoplasia and aplasia of the toes. The syndrome is caused by a partial loss of WNT7A function (gene mapped to 3p25). en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fuhrmann syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Fuhrmann syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Fuhrmann syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Fuhrmann syndrome	Finding site	Limb structure	true	Inferred relationship	Some	1
Fuhrmann syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Fuhrmann syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Fuhrmann syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Fuhrmann syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Fuhrmann syndrome	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
Fuhrmann syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Fuhrmann syndrome	Is a	Dysostosis	true	Inferred relationship	Some
Fuhrmann syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Fuhrmann syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Fuhrmann syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Fuhrmann syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Fuhrmann syndrome	Finding site	Limb structure	false	Inferred relationship	Some	2
Fuhrmann syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Fuhrmann syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Fuhrmann syndrome	Finding site	Bone structure	false	Inferred relationship	Some	3
Fuhrmann syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Fuhrmann syndrome	Finding site	Bone structure	true	Inferred relationship	Some	2

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
3324896012	Fuhrmann syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3324897015	Fuhrmann syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3324898013	Fuhrmann Rieger de Sousa syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3324899017	This syndrome has main characteristics of bowing of the femora, aplasia or hypoplasia of the fibulae and poly, oligo and syndactyly. It has been reported in 11 patients. Most of the patients also had a hypoplastic pelvis and hypoplasia of the fingers and fingernails. Some had congenital dislocation of the hip, absence or fusion of tarsal bones, absence of various metatarsals and hypoplasia and aplasia of the toes. The syndrome is caused by a partial loss of WNT7A function (gene mapped to 3p25).	en	Definition	Active	Case sensitive	SNOMED CT core