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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3324896012 Fuhrmann syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3324897015 Fuhrmann syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3324898013 Fuhrmann Rieger de Sousa syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3324896012	Fuhrmann syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3324897015	Fuhrmann syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3324898013	Fuhrmann Rieger de Sousa syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module