254091006: Trichorhinophalangeal dysplasia type I (disorder)

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

\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 I

\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\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type I

\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 I
\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 I

\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Trichorhinophalangeal dysplasia type I

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

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
Trichorhinophalangeal dysplasia type I	Is a	Trichorhinophalangeal syndrome	true	Inferred relationship	Some
Trichorhinophalangeal dysplasia type I	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Associated morphology	Developmental anomaly	false	Inferred relationship	Some
Trichorhinophalangeal dysplasia type I	Finding site	Bone structure	false	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Finding site	Musculoskeletal structure of limb	true	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Finding site	Skin structure	false	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Occurrence	Congenital	false	Inferred relationship	Some
Trichorhinophalangeal dysplasia type I	Finding site	Limb structure	false	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type I	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type I	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Finding site	Bone structure	false	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Finding site	Skin structure	false	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Some
Trichorhinophalangeal dysplasia type I	Occurrence	Congenital	true	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type I	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type I	Finding site	Face structure	true	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type I	Occurrence	Congenital	false	Inferred relationship	Some	3
Trichorhinophalangeal dysplasia type I	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Trichorhinophalangeal dysplasia type I	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type I	Finding site	Face structure	false	Inferred relationship	Some	3
Trichorhinophalangeal dysplasia type I	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type I	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type I	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Occurrence	Congenital	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
378244018	Trichorhinophalangeal dysplasia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378245017	Trichorhinophalangeal syndrome I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378246016	TRPS I - Trichorhinophalangeal syndrome I	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
644935018	Trichorhinophalangeal dysplasia type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5704841000172110	dysplasie tricho-rhino-phalangienne type I	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4236561000172112	trichorinofalangeale dysplasie type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4236571000172115	TRPS1	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4236581000172117	Giedion-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4236591000172119	trichorinofalangeaal syndroom type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4236601000172112	syndroom van Giedion	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)