Trichorhinophalangeal syndrome type 1 and 3 818959006

SNOMED CT code

SNOMED code

818959006

name

Trichorhinophalangeal syndrome type 1 and 3

status

active

date introduced

2020-01-31

fully specified name(s)

Trichorhinophalangeal syndrome type 1 and 3 (disorder)

synonyms

Trichorhinophalangeal syndrome type 1 and 3
Trichorhinophalangeal syndrome type I and III

attributes - group1

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Musculoskeletal structure of limb 281242000

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

attributes - group2

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Face structure 89545001

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

parents

Autosomal dominant hereditary disorder 11164009
Trichorhinophalangeal syndrome 18077009
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Congenital anomaly of musculoskeletal system 73573004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal dominant hereditary disorder 11164009
Trichorhinophalangeal syndrome type 1 and 3 818959006

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 syndrome type 1 and 3 818959006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Trichorhinophalangeal syndrome type 1 and 3 818959006

SNOMED CT Concept 138875005
Clinical finding 404684003
Musculoskeletal finding 106028002
Disorder of musculoskeletal system 928000
Hereditary disorder of musculoskeletal system 363212003
Trichorhinophalangeal syndrome type 1 and 3 818959006

SNOMED CT Concept 138875005
Clinical finding 404684003
Musculoskeletal finding 106028002
Disorder of musculoskeletal system 928000
Congenital anomaly of musculoskeletal system 73573004
Trichorhinophalangeal syndrome type 1 and 3 818959006

ancestors

sorted most to least specific

Autosomal dominant hereditary disorder 11164009
Trichorhinophalangeal syndrome 18077009
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Congenital anomaly of musculoskeletal system 73573004
Autosomal hereditary disorder 1899006
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Hereditary disorder by system 363137000
Disorder of musculoskeletal system 928000
Hereditary disease 32895009
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
Genetic disease 782964007
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

Disease 64572001

Genetic disease 782964007

Hereditary disease 32895009

Autosomal hereditary disorder 1899006

Autosomal dominant hereditary disorder 11164009

Trichorhinophalangeal syndrome type 1 and 3 818959006

SNOMED CT code