13280000: syndroom van femorale hypoplasie en ongebruikelijk aangezicht (aandoening)

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

\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
\Head finding (finding)\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
\Head finding (finding)\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

\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\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 limb (disorder)\Disorder of lower 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 limb (disorder)\Disorder of lower 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 limb (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 limb (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 limb (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 limb\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 limb\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 limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\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 foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\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 limb (disorder)\Disorder of lower limb\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 limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Hypoplasia of lower limb\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital anomaly of femur (disorder)\Congenital hypoplasia of femur\Femoral hypoplasia - unusual facies syndrome
\Disease\Disorder of limb (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 limb (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 limb (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\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	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	gebrekkige ontwikkeling (afwijkende morfologie)	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
6636851000146114	femoraal-faciaal syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6636861000146112	FHUFS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6636871000146118	'femoral hypoplasia-unusual facies'-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6636881000146116	FFS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6748741000146112	syndroom van femurhypoplasie en afwijkend gelaat	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8277361000146110	syndroom van femorale hypoplasie en ongebruikelijk aangezicht (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8277371000146116	syndroom van femorale hypoplasie en ongebruikelijk aangezicht	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)