Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome 1172605003

SNOMED CT code

SNOMED code

1172605003

name

Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome

status

active

date introduced

2021-09-30

fully specified name(s)

Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome (disorder)

synonyms

Retinitis pigmentosa, deafness, premature aging, short stature, facial dysmorphism syndrome
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
Retinitis pigmentosa, deafness, premature ageing, short stature, facial dysmorphism syndrome

attributes - group4

Finding site

Auditory structure 91159003

attributes - group6

Finding site

Skin structure 39937001

attributes - group3

Interprets

Hearing 47078008

Has interpretation

Impaired 260379002

attributes - group1

Occurrence

Congenital 255399007

Finding site

Digit structure 82680008

Associated morphology

Abnormally short growth 11182007

Pathological process

Pathological developmental process 308490002

attributes - group5

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

attributes - group2

Finding site

Retinal structure 5665001

Associated morphology

Dystrophy 4720007

attributes - group7

Interprets

Body height measure 50373000

Has interpretation

Below reference range 281300000

parents

Autosomal recessive retinitis pigmentosa 232053004
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Disorder of stature 237834000
Auditory system hereditary disorder 362991006
Developmental hereditary disorder 363070008
Premature aging syndrome 399959003
Brachydactyly 43476002
Sensorineural hearing loss 60700002

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 recessive hereditary disorder 85995004
Autosomal recessive retinitis pigmentosa 232053004
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome 1172605003

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
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome 1172605003

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of general physiological development 271616002
Disorder of stature 237834000
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome 1172605003

SNOMED CT Concept 138875005
Clinical finding 404684003
Ear and auditory finding 118236001
Disorder of auditory system 362966006
Auditory system hereditary disorder 362991006
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome 1172605003

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome 1172605003

SNOMED CT Concept 138875005
Clinical finding 404684003
Integumentary system finding 106077005
Disorder of integument 128598002
Hereditary disorder of the integument 363185004
Premature aging syndrome 399959003
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome 1172605003

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of limb structure 302293008
Deformity of limb 445144002
Longitudinal deficiency of part of limb 716638009
Brachydactyly 43476002
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome 1172605003

SNOMED CT Concept 138875005
Clinical finding 404684003
Functional finding 118228005
Hearing finding 118230007
Hearing disorder 128540005
Hearing loss 15188001
Sensorineural hearing loss 60700002
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome 1172605003

ancestors

sorted most to least specific

Autosomal recessive retinitis pigmentosa 232053004
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Disorder of stature 237834000
Auditory system hereditary disorder 362991006
Developmental hereditary disorder 363070008
Premature aging syndrome 399959003
Brachydactyly 43476002
Sensorineural hearing loss 60700002
Retinitis pigmentosa 28835009
Multiple malformation syndrome with limb defect as major feature 41443008
General finding of height 248327008
Hereditary disorder of the integument 363185004
Longitudinal deficiency of part of limb 716638009
Hearing loss 15188001
Autosomal recessive hereditary disorder 85995004
Multiple malformation syndrome with facial defects as major feature 65094009
Finding of general physiological development 271616002
Inborn error of metabolism 86095007
Disorder of skin 95320005
Congenital abnormal shape of digit 92907008
Hereditary retinal dystrophy 41799005
Multiple system malformation syndrome 82354003
Height / growth finding 365714001
Congenital deformity 276655000
Hearing disorder 128540005
Autosomal hereditary disorder 1899006
Congenital anomaly of face 398302004
Hereditary metabolic disease 1821000146108
Skin finding 106076001
Congenital anomaly of digit 403855001
Deformity of limb 445144002
Disorder of skin and/or subcutaneous tissue 80659006
Retinal dystrophy 314407005
Congenital malformation syndrome 400038003
Body measurement finding 365605003
Disorder of auditory system 362966006
Disorder of integument 128598002
Hearing finding 118230007
Hereditary disorder of the visual system 363343008
Congenital anomaly of limb 60475009
Disorder of face 118930001
Disorder of digit 128597007
Deformity 417893002
Congenital anomaly of head 87290003
Metabolic disease 75934005
Skin AND/OR mucosa finding 415531008
Disorder of soft tissue 19660004
Degeneration of retina 95695004
Congenital malformation 276654001
Ear and auditory finding 118236001
Integumentary system finding 106077005
Functional finding 118228005
Disorder of limb 128605003
Hereditary disorder by system 363137000
Finding of face 301310005
General finding of soft tissue 248402002
Retinal disorder 29555009
Developmental disorder 5294002
Hereditary disease 32895009
Degenerative disorder of eye 62585004
Finding of limb structure 302293008
Congenital disease 66091009
Disorder of vitreous body and retina 312771007
Genetic disease 782964007
Anomaly of eye 11131000119108
Retina finding 399858007
Degenerative disorder 362975008
Disorder of posterior segment of eye 128536001
Disorder of eye 371405004
Disorder of sensory organ 1279550006
Globe finding 246915008
Disorder of eye region 371409005
Visual system disorder 128127008
Disorder of head 118934005
Finding of head region 298364001
Eye / vision finding 118235002
Head finding 406122000
Disorder of body system 362965005
Disease 64572001
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 recessive hereditary disorder 85995004

Autosomal recessive retinitis pigmentosa 232053004

Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome 1172605003

SNOMED CT code