389166003: trichorinofalangeaal syndroom type 3 (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\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type III (disorder)
\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\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type III (disorder)
\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\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type III (disorder)

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type III (disorder)

\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Trichorhinophalangeal dysplasia type III (disorder)

\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\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type III (disorder)
\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\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type III (disorder)
\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\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type III (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Trichorhinophalangeal dysplasia type III (disorder)
\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\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type III (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Trichorhinophalangeal dysplasia type III (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type III (disorder)
\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\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type III (disorder)
\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\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type III (disorder)
\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\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type III (disorder)
\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\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type III (disorder)
\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\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type III (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Trichorhinophalangeal dysplasia type III (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type III (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Trichorhinophalangeal dysplasia type III (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type III (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type III (disorder)	Is a	Trichorhinophalangeal syndrome	true	Inferred relationship	Some
Trichorhinophalangeal dysplasia type III (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Trichorhinophalangeal dysplasia type III (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type III (disorder)	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type III (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type III (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type III (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type III (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type III (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type III (disorder)	Finding site	Musculoskeletal structure of limb	true	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type III (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type III (disorder)	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Some
Trichorhinophalangeal dysplasia type III (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type III (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type III (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type III (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Trichorhinophalangeal dysplasia type III (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Trichorhinophalangeal dysplasia type III (disorder)	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type III (disorder)	Finding site	Face structure	false	Inferred relationship	Some	3
Trichorhinophalangeal dysplasia type III (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type III (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type III (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type III (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type III (disorder)	Pathological process (attribute)	Pathological developmental process	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
1463345014	Trichorhinophalangeal dysplasia type III (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1483218015	Trichorhinophalangeal dysplasia type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6737841000146118	Sugio-Kajii-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6737851000146115	trichorinofalangeaal syndroom type 3 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6737861000146117	TRPS3	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6737871000146111	trichorinofalangeaal syndroom type 3	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6737881000146113	syndroom van Sugio-Kajii	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8690481000146118	trichorinofalangeale dysplasie type 3	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)