48718006: Roberts-syndroom (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\Roberts-SC phocomelia 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\Roberts-SC phocomelia 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\Roberts-SC phocomelia syndrome

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\...

\Partial congenital absence of limb\Phocomelia\Roberts-SC phocomelia syndrome

\Multiple malformation syndrome with facial-limb defects as major feature\Roberts-SC phocomelia syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Roberts-SC phocomelia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Roberts-SC phocomelia 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\Roberts-SC phocomelia 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\Roberts-SC phocomelia 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\Roberts-SC phocomelia syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Roberts-SC phocomelia 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\Roberts-SC phocomelia syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Roberts-SC phocomelia syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Roberts-SC phocomelia 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\Roberts-SC phocomelia 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\Roberts-SC phocomelia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Roberts-SC phocomelia 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\Roberts-SC phocomelia 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\Roberts-SC phocomelia 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\Roberts-SC phocomelia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Roberts-SC phocomelia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Roberts-SC phocomelia 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
Roberts-SC phocomelia syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Is a	Port-wine stain of skin	false	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Finding site	Structure of capillary blood vessel	false	Inferred relationship	Some	1
Roberts-SC phocomelia syndrome	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Roberts-SC phocomelia syndrome	Associated morphology	Neoplasm, benign	false	Inferred relationship	Some	4
Roberts-SC phocomelia syndrome	Finding site	Structure of skin region	false	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Finding site	Venous structure	false	Inferred relationship	Some	1
Roberts-SC phocomelia syndrome	Pathological process	Benign neoplastic process	false	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Finding site	Cardiovascular system subdivision	false	Inferred relationship	Some	2
Roberts-SC phocomelia syndrome	Pathological process	Neoplastic process	false	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Associated morphology	Vascular nevus	false	Inferred relationship	Some	3
Roberts-SC phocomelia syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
Roberts-SC phocomelia syndrome	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Some	1
Roberts-SC phocomelia syndrome	Finding site	Limb structure	false	Inferred relationship	Some	2
Roberts-SC phocomelia syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Roberts-SC phocomelia syndrome	Is a	Venous malformation	false	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Roberts-SC phocomelia syndrome	Is a	Site-specific disorder of skin	false	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Associated morphology	congenitale capillaire proliferatie (afwijkende morfologie)	false	Inferred relationship	Some	1
Roberts-SC phocomelia syndrome	Finding site	Structure of capillary of skin	false	Inferred relationship	Some	1
Roberts-SC phocomelia syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	2
Roberts-SC phocomelia syndrome	Is a	Disorder of soft tissue of limb	false	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Is a	Congenital abnormality of vein	false	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Is a	Phocomelia	true	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Is a	Port-wine stain of skin (disorder)	false	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	3
Roberts-SC phocomelia syndrome	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	2
Roberts-SC phocomelia syndrome	Finding site	Limb structure	false	Inferred relationship	Some	3
Roberts-SC phocomelia syndrome	Finding site	Limb structure	false	Inferred relationship	Some	2
Roberts-SC phocomelia syndrome	Finding site	Limb structure	false	Inferred relationship	Some	3
Roberts-SC phocomelia syndrome	Finding site	Limb structure	false	Inferred relationship	Some	1
Roberts-SC phocomelia syndrome	Finding site	Limb structure	false	Inferred relationship	Some	1
Roberts-SC phocomelia syndrome	Finding site	Limb structure	false	Inferred relationship	Some	3
Roberts-SC phocomelia syndrome	Finding site	Limb structure	false	Inferred relationship	Some	2
Roberts-SC phocomelia syndrome	Finding site	Limb structure	false	Inferred relationship	Some	3
Roberts-SC phocomelia syndrome	Finding site	Limb structure	false	Inferred relationship	Some	1
Roberts-SC phocomelia syndrome	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	1
Roberts-SC phocomelia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Roberts-SC phocomelia syndrome	Finding site	Limb structure	false	Inferred relationship	Some	2
Roberts-SC phocomelia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Roberts-SC phocomelia syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Roberts-SC phocomelia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Roberts-SC phocomelia syndrome	Finding site	Limb structure	false	Inferred relationship	Some	4
Roberts-SC phocomelia syndrome	Finding site	Face structure	false	Inferred relationship	Some	3
Roberts-SC phocomelia syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	2
Roberts-SC phocomelia syndrome	Associated morphology	Abnormal shortening	false	Inferred relationship	Some	4
Roberts-SC phocomelia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Roberts-SC phocomelia syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	5
Roberts-SC phocomelia syndrome	Finding site	Limb structure	false	Inferred relationship	Some	5
Roberts-SC phocomelia syndrome	Finding site	Extremity part	true	Inferred relationship	Some	2
Roberts-SC phocomelia syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Roberts-SC phocomelia syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Roberts-SC phocomelia syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Roberts-SC phocomelia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Roberts-SC phocomelia syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Roberts-SC phocomelia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	2

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
81172015	Roberts-SC phocomelia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
81173013	Pseudothalidomide syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
81174019	Hypomelia-hypotrichosis-facial hemangioma syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
495187019	Hypomelia-hypotrichosis-facial haemangioma syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
786317018	Roberts-SC phocomelia syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1216672017	Hypomelia hypotrichosis facial haemangioma syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1218162013	Hypomelia hypotrichosis facial hemangioma syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1230637018	Robert's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6722151000146114	syndroom van hypomelie, hypotrichose en faciaal hemangioom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6722161000146112	pseudothalidomidesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6722511000146117	Roberts-SC-focomeliesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6722521000146110	SC-pseudothalidomidesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6722531000146112	RBS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6722541000146116	SC-focomeliesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6722551000146118	Roberts-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6722561000146115	syndroom van Roberts	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8516631000146113	syndroom van hypomelie, hypotrichose en hemangioom in aangezicht	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10672011000146112	Roberts-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)