13280000: Femoral hypoplasia - unusual facies syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of thigh\Congenital anomaly of femur\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Finding of limb structure\Disorder of extremity\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\Congenital anomaly of femur\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Finding of limb structure\Finding of lower limb\Finding of thigh\Disorder of thigh\Congenital anomaly of femur\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\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 hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\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 of face\Congenital anomaly of face\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\Congenital anomaly of head\Congenital anomaly of face\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\Congenital anomaly of femur\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\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 hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome

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

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

22724016 Femoral hypoplasia - unusual facies syndrome en Synonym Active Case insensitive SNOMED CT core

3791286013 Femoral facial syndrome en Synonym Active Case insensitive SNOMED CT core

737396016 Femoral hypoplasia - unusual facies syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Femoral hypoplasia - unusual facies syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Femoral hypoplasia - unusual facies syndrome	Pathological process	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	Pathological developmental process	true	Inferred relationship	Some	2
Femoral hypoplasia - unusual facies syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
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	Congenital malformation	false	Inferred relationship	Some
Femoral hypoplasia - unusual facies syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Femoral hypoplasia - unusual facies syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
Femoral hypoplasia - unusual facies syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Femoral hypoplasia - unusual facies syndrome	Occurrence	Congenital	false	Inferred relationship	Some

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
22724016	Femoral hypoplasia - unusual facies syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3791286013	Femoral facial syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
737396016	Femoral hypoplasia - unusual facies syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core