389166003: Trichorhinophalangeal dysplasia type III (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\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 of head\Disorder of face\Congenital anomaly of face\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 of head\Congenital anomaly of head\Congenital anomaly of face\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

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

\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Trichorhinophalangeal dysplasia type III
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type III
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\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
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\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
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\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
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\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
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\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
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Trichorhinophalangeal dysplasia type III
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type III
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\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
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\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
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\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
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Trichorhinophalangeal dysplasia type III
\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

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

Descriptions:

Id Description Lang Type Status Case? Module

1463345014 Trichorhinophalangeal dysplasia type III (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

1483218015 Trichorhinophalangeal dysplasia type III en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Trichorhinophalangeal dysplasia type III	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Trichorhinophalangeal dysplasia type III	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Trichorhinophalangeal dysplasia type III	Is a	Trichorhinophalangeal syndrome	true	Inferred relationship	Existential restriction modifier
Trichorhinophalangeal dysplasia type III	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Trichorhinophalangeal dysplasia type III	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Trichorhinophalangeal dysplasia type III	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Existential restriction modifier	1
Trichorhinophalangeal dysplasia type III	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Trichorhinophalangeal dysplasia type III	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier	1
Trichorhinophalangeal dysplasia type III	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Trichorhinophalangeal dysplasia type III	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Trichorhinophalangeal dysplasia type III	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Trichorhinophalangeal dysplasia type III	Finding site	Musculoskeletal structure of limb	true	Inferred relationship	Existential restriction modifier	1
Trichorhinophalangeal dysplasia type III	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier	1
Trichorhinophalangeal dysplasia type III	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Trichorhinophalangeal dysplasia type III	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Trichorhinophalangeal dysplasia type III	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Trichorhinophalangeal dysplasia type III	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Trichorhinophalangeal dysplasia type III	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Trichorhinophalangeal dysplasia type III	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Trichorhinophalangeal dysplasia type III	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Existential restriction modifier	2
Trichorhinophalangeal dysplasia type III	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	3
Trichorhinophalangeal dysplasia type III	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Trichorhinophalangeal dysplasia type III	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Trichorhinophalangeal dysplasia type III	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Trichorhinophalangeal dysplasia type III	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Trichorhinophalangeal dysplasia type III	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	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	SNOMED CT core module
1483218015	Trichorhinophalangeal dysplasia type III	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module