715474004: Aplasia of fibula co-occurrent with complex brachydactyly (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb (disorder)\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Finding of limb structure\Finding of lower limb\Finding of bone of lower limb (finding)\Absence of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Finding of limb structure\Finding of lower limb\Finding of bone of lower limb (finding)\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Finding of limb structure\Finding of lower limb\Absence of lower limb (finding)\Absence of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb (disorder)\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)

\Musculoskeletal finding\Bone finding\Finding of bone of lower limb (finding)\Absence of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Musculoskeletal finding\Bone finding\Finding of bone of lower limb (finding)\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Musculoskeletal finding\Bone finding\Bone absent (finding)\Absence of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Musculoskeletal finding\Bone finding\Bone absent (finding)\Congenital absence of skeletal bone\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb (disorder)\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3302752014 Aplasia of fibula co-occurrent with complex brachydactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302753016 Aplasia of fibula co-occurrent with complex brachydactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302754010 Fibular aplasia and complex brachydactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302755011 Du Pan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3302760010 Severe reduction or absence of the fibula and complex brachydactyly. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5475401000241117 aplasie fibulaire concomitante d'une brachydactylie complexe fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aplasia of fibula co-occurrent with complex brachydactyly (disorder)	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder)	Is a	Congenital anomaly of fibula	false	Inferred relationship	Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder)	Associated morphology	Aplasia	true	Inferred relationship	Some	1
Aplasia of fibula co-occurrent with complex brachydactyly (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Aplasia of fibula co-occurrent with complex brachydactyly (disorder)	Finding site	Bone structure of fibula	true	Inferred relationship	Some	1
Aplasia of fibula co-occurrent with complex brachydactyly (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Aplasia of fibula co-occurrent with complex brachydactyly (disorder)	Is a	Absence of fibula	false	Inferred relationship	Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder)	Is a	Congenital absence of fibula	true	Inferred relationship	Some

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
3302752014	Aplasia of fibula co-occurrent with complex brachydactyly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302753016	Aplasia of fibula co-occurrent with complex brachydactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302754010	Fibular aplasia and complex brachydactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302755011	Du Pan syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302760010	Severe reduction or absence of the fibula and complex brachydactyly. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5475401000241117	aplasie fibulaire concomitante d'une brachydactylie complexe	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module