Waardenburg syndrome type 1 1010606009

SNOMED CT code

SNOMED code

1010606009

name

Waardenburg syndrome type 1

status

active

date introduced

2021-01-31

fully specified name(s)

Waardenburg syndrome type 1 (disorder)

synonyms

Waardenburg syndrome type 1
Waardenburg syndrome type I

attributes - group1

Associated morphology

Hypopigmentation 89031001

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Finding site

Hair structure 386045008

attributes - group2

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Finding site

Medial canthus structure 70339009

Associated morphology

Lateral displacement 37068007

attributes - group3

Interprets

Hearing 47078008

Has interpretation

Decreased 1250004

attributes - group4

Occurrence

Congenital 255399007

Finding site

Auditory structure 91159003

attributes - group5

Occurrence

Congenital 255399007

Finding site

Eye structure 81745001

Associated morphology

Hypopigmentation 89031001

Pathological process

Pathological developmental process 308490002

parents

Waardenburg's syndrome 47434006
Congenital oculocutaneous hypopigmentation 61649007
Congenital anomaly of hair 65033000
Dystopia canthorum 726407000

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Functional finding 118228005
Hearing finding 118230007
Decreased hearing 103276001
Waardenburg's syndrome 47434006
Waardenburg syndrome type 1 1010606009

SNOMED CT Concept 138875005
Clinical finding 404684003
Eye / vision finding 118235002
Visual system disorder 128127008
Congenital anomaly of visual system 127329003
Congenital anomaly of eye 19416009
Congenital oculocutaneous hypopigmentation 61649007
Waardenburg syndrome type 1 1010606009

SNOMED CT Concept 138875005
Clinical finding 404684003
Integumentary system finding 106077005
Disorder of integument 128598002
Congenital anomaly of integument 38164009
Congenital anomaly of skin 199879009
Congenital anomaly of hair 65033000
Waardenburg syndrome type 1 1010606009

SNOMED CT Concept 138875005
Clinical finding 404684003
Eye / vision finding 118235002
Eyelid finding 246812007
Lid margin finding 246845007
Medial canthus finding 386659002
Dystopia canthorum 726407000
Waardenburg syndrome type 1 1010606009

ancestors

sorted most to least specific

Waardenburg's syndrome 47434006
Congenital oculocutaneous hypopigmentation 61649007
Congenital anomaly of hair 65033000
Dystopia canthorum 726407000
Decreased hearing 103276001
Congenital anomaly of eye 19416009
Medial canthus finding 386659002
Congenital deficiency of pigment of skin 1953005
Hearing loss associated with syndrome 232333009
Genetic disorder of skin pigmentation 724839001
Multiple system malformation syndrome 82354003
Congenital hearing disorder 95827002
Lesion of eye 301905003
Disorder of hair 279425004
Congenital anomaly of eyelid 91158006
Anomaly of eye 11131000119108
Lid margin finding 246845007
Congenital pigmentary skin anomalies 205564003
Hearing loss 15188001
Congenital malformation syndrome 400038003
Decline in functional status 154091000119106
Disorder of skin appendage 238714008
Congenital anomaly of ocular adnexa 128327004
Skin hypopigmented 23006000
Genetic disease 782964007
Hair finding 247522004
Congenital anomaly of face 398302004
Disorder of eyelid 60113004
Disorder of eye 371405004
Congenital anomaly of skin 199879009
Eyelid finding 246812007
Hearing disorder 128540005
Disorder of skin pigmentation 46690002
Congenital anomaly of visual system 127329003
Congenital anomaly of head 87290003
Disorder of ocular adnexa 118941004
Disorder of face 118930001
Hearing finding 118230007
Disorder of sensory organ 1279550006
Congenital anomaly of integument 38164009
Disorder of pigmentation 414032001
Globe finding 246915008
Disorder of eye region 371409005
Finding of face 301310005
Disorder of auditory system 362966006
Skin lesion 95324001
Functional finding 118228005
Congenital malformation 276654001
Ear and auditory finding 118236001
Visual system disorder 128127008
Disorder of head 118934005
Disorder of skin 95320005
Finding of head region 298364001
Soft tissue lesion 239953001
Lesion of skin and/or skin-associated mucous membrane 714974000
Eye / vision finding 118235002
Developmental disorder 5294002
Head finding 406122000
Skin finding 106076001
Congenital disease 66091009
Disorder of skin and/or subcutaneous tissue 80659006
Skin or mucosa lesion 247440002
Disorder of integument 128598002
Finding of head and neck region 118254002
Disorder of soft tissue 19660004
Skin AND/OR mucosa finding 415531008
Integumentary system finding 106077005
Disorder of body system 362965005
General finding of soft tissue 248402002
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Functional finding 118228005

Hearing finding 118230007

Decreased hearing 103276001

Waardenburg's syndrome 47434006

Waardenburg syndrome type 1 1010606009

SNOMED CT code