Trichorhinophalangeal dysplasia type I 254091006

SNOMED CT code

SNOMED code

254091006

name

Trichorhinophalangeal dysplasia type I

status

active

date introduced

2002-01-31

fully specified name(s)

Trichorhinophalangeal dysplasia type I (disorder)

synonyms

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome I
TRPS I - Trichorhinophalangeal syndrome I

attributes - group2

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

attributes - group1

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Finding site

Musculoskeletal structure of limb 281242000

parents

Trichorhinophalangeal syndrome 18077009
Congenital anomaly of musculoskeletal system 73573004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of limb structure 302293008
Disorder of limb 128605003
Congenital anomaly of limb 60475009
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Trichorhinophalangeal syndrome 18077009
Trichorhinophalangeal dysplasia type I 254091006

SNOMED CT Concept 138875005
Clinical finding 404684003
Musculoskeletal finding 106028002
Disorder of musculoskeletal system 928000
Congenital anomaly of musculoskeletal system 73573004
Trichorhinophalangeal dysplasia type I 254091006

ancestors

sorted most to least specific

Trichorhinophalangeal syndrome 18077009
Congenital anomaly of musculoskeletal system 73573004
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Disorder of musculoskeletal system 928000
Multiple malformation syndrome with limb defect as major feature 41443008
Congenital anomaly of limb 60475009
Multiple malformation syndrome with facial defects as major feature 65094009
Musculoskeletal finding 106028002
Disorder of body system 362965005
Multiple system malformation syndrome 82354003
Disorder of limb 128605003
Congenital anomaly of face 398302004
Congenital malformation syndrome 400038003
Finding of limb structure 302293008
Disorder of face 118930001
Congenital anomaly of head 87290003
Congenital malformation 276654001
Disorder of head 118934005
Finding of face 301310005
Developmental disorder 5294002
Congenital disease 66091009
Finding of head region 298364001
Disease 64572001
Head finding 406122000
Finding of head and neck region 118254002
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Finding of limb structure 302293008

Disorder of limb 128605003

Congenital anomaly of limb 60475009

Multiple malformation syndrome with facial-limb defects as major feature 23359005

Trichorhinophalangeal syndrome 18077009

Trichorhinophalangeal dysplasia type I 254091006

SNOMED CT code