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18077009: Trichorhinophalangeal syndrome (disorder)

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

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

\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

\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal 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\Trichorhinophalangeal 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\Trichorhinophalangeal syndrome
\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
\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
\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
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal 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\Trichorhinophalangeal 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\Trichorhinophalangeal 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\Trichorhinophalangeal syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

30539015 Trichorhinophalangeal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
745453014 Trichorhinophalangeal syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
950061000172110 syndrome tricho-rhino-phalangien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Trichorhinophalangeal syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Trichorhinophalangeal syndrome	Is a	Ectodermal dysplasia with hair-tooth-nail defects	false	Inferred relationship	Some
Trichorhinophalangeal syndrome	Is a	Acromesomelic dysplasia syndrome	false	Inferred relationship	Some
Trichorhinophalangeal syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Trichorhinophalangeal syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some
Trichorhinophalangeal syndrome	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some	3
Trichorhinophalangeal syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Finding site	Limb structure	false	Inferred relationship	Some	2
Trichorhinophalangeal syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	3
Trichorhinophalangeal syndrome	Is a	Disorder of soft tissue of limb	false	Inferred relationship	Some
Trichorhinophalangeal syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some	3
Trichorhinophalangeal syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Finding site	Limb structure	false	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Finding site	Limb structure	false	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Trichorhinophalangeal syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Trichorhinophalangeal syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Trichorhinophalangeal syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Trichorhinophalangeal syndrome	Finding site	Limb structure	true	Inferred relationship	Some	2
Trichorhinophalangeal syndrome	Finding site	Face structure	false	Inferred relationship	Some	3
Trichorhinophalangeal syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Trichorhinophalangeal syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Trichorhinophalangeal syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Trichorhinophalangeal dysplasia type I	Is a	True	Trichorhinophalangeal syndrome	Inferred relationship	Some
Langer-Giedion syndrome	Is a	True	Trichorhinophalangeal syndrome	Inferred relationship	Some
Trichorhinophalangeal dysplasia type III (disorder)	Is a	True	Trichorhinophalangeal syndrome	Inferred relationship	Some
Trichorhinophalangeal syndrome type 1 and 3	Is a	True	Trichorhinophalangeal syndrome	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
30539015	Trichorhinophalangeal syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
745453014	Trichorhinophalangeal syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
950061000172110	syndrome tricho-rhino-phalangien	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module