254091006: Trichorhinophalangeal dysplasia type I (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 I
• \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 I
• \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 I
• \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 I
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Trichorhinophalangeal dysplasia type I
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Trichorhinophalangeal dysplasia type I
• \Disease\Disorder of extremity\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 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 I
• \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 I
• \Disease\Congenital disease\Congenital anomaly\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 I
• \Disease\Congenital disease\Congenital anomaly\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 I
• \Disease\Congenital disease\Congenital anomaly\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 I
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Trichorhinophalangeal dysplasia type I
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type I
• \Disease\Developmental disorder\Congenital anomaly\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 I
• \Disease\Developmental disorder\Congenital anomaly\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 I
• \Disease\Developmental disorder\Congenital anomaly\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 I
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Trichorhinophalangeal dysplasia type I
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal dysplasia type I

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
378244018	Trichorhinophalangeal dysplasia type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
378245017	Trichorhinophalangeal syndrome I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
378246016	TRPS I - Trichorhinophalangeal syndrome I	en	Synonym	Active	Case sensitive	SNOMED CT core
644935018	Trichorhinophalangeal dysplasia type I (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start