13280000: Femoral hypoplasia - unusual facies syndrome (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 thigh (disorder)\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb (disorder)\Hypoplasia of lower limb\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb (disorder)\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Hypoplasia of lower limb\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Femoral hypoplasia - unusual facies syndrome
\Finding of limb structure\Finding of lower limb\Finding of bone of lower limb (finding)\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Finding of limb structure\Finding of lower limb\Finding of thigh (finding)\Disorder of thigh (disorder)\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of thigh (disorder)\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb (disorder)\Hypoplasia of lower limb\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb (disorder)\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Femoral hypoplasia - unusual facies syndrome

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Femoral hypoplasia - unusual facies syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Femoral hypoplasia - unusual facies syndrome

\Musculoskeletal finding\Bone finding\Finding of bone of lower limb (finding)\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\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 femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome

\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 femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of thigh (disorder)\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb (disorder)\Hypoplasia of lower limb\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb (disorder)\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Hypoplasia of lower limb\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Femoral hypoplasia - unusual facies syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Femoral hypoplasia - unusual facies syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Femoral hypoplasia - unusual facies syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Femoral hypoplasia - unusual facies syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Femoral hypoplasia - unusual facies syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Hypoplasia of lower limb\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Femoral hypoplasia - unusual facies syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Hypoplasia of lower limb\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Femoral hypoplasia - unusual facies syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Femoral hypoplasia - unusual facies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Femoral hypoplasia - unusual facies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Hypoplasia of lower limb\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Femoral hypoplasia - unusual facies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Hypoplasia of lower limb\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Femoral hypoplasia - unusual facies syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Femoral hypoplasia - unusual facies syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	false	Inferred relationship	Some
Femoral hypoplasia - unusual facies syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Femoral hypoplasia - unusual facies syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Femoral hypoplasia - unusual facies syndrome	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Femoral hypoplasia - unusual facies syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Femoral hypoplasia - unusual facies syndrome	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
Femoral hypoplasia - unusual facies syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Femoral hypoplasia - unusual facies syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Femoral hypoplasia - unusual facies syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Femoral hypoplasia - unusual facies syndrome	Finding site	Bone structure of femur	true	Inferred relationship	Some	2
Femoral hypoplasia - unusual facies syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Femoral hypoplasia - unusual facies syndrome	Is a	Congenital hypoplasia of femur	true	Inferred relationship	Some
Femoral hypoplasia - unusual facies syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Femoral hypoplasia - unusual facies syndrome	Finding site	Face structure	true	Inferred relationship	Some	1

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
22724016	Femoral hypoplasia - unusual facies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
737396016	Femoral hypoplasia - unusual facies syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3791286013	Femoral facial syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2598941000052115	syndrom med hypoplasi av femur i kombination med särskilda ansiktsdrag	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)