Acrocardiofacial syndrome 890221004

SNOMED CT code

SNOMED code

890221004

name

Acrocardiofacial syndrome

status

active

date introduced

2021-01-31

fully specified name(s)

Acrocardiofacial syndrome (disorder)

synonyms

Acro-cardio-facial syndrome
Acrocardiofacial syndrome
ACFS - acrocardiofacial syndrome
CCGE - cleft palate, cardiac defect, genital anomalies, ectrodactyly syndrome
Cleft palate, cardiac defect, genital anomalies, and ectrodactyly

attributes - group1

Associated morphology

Developmental failure of fusion 371520008

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Finding site

Hand structure 85562004

attributes - group2

Associated morphology

Absence 418560003

Finding site

Entire finger 302541005

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

parents

Congenital cleft hand 13624003
Developmental hereditary disorder 363070008
Multiple malformation syndrome with limb defect as major feature 41443008
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of limb structure 302293008
Disorder of limb 128605003
Disorder of digit 128597007
Congenital anomaly of digit 403855001
Adactyly 275348004
Ectrodactyly 81208006
Congenital cleft hand 13624003
Acrocardiofacial syndrome 890221004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Acrocardiofacial syndrome 890221004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Congenital malformation 276654001
Congenital malformation syndrome 400038003
Multiple system malformation syndrome 82354003
Multiple malformation syndrome with limb defect as major feature 41443008
Acrocardiofacial syndrome 890221004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Acrocardiofacial syndrome 890221004

ancestors

sorted most to least specific

Congenital cleft hand 13624003
Developmental hereditary disorder 363070008
Multiple malformation syndrome with limb defect as major feature 41443008
Autosomal recessive hereditary disorder 85995004
Congenital absence of finger 48301005
Multiple system malformation syndrome 82354003
Autosomal hereditary disorder 1899006
Ectrodactyly 81208006
Congenital anomaly of finger 20948006
Hereditary disease 32895009
Congenital malformation syndrome 400038003
Adactyly 275348004
Congenital absence of hand 371199008
Disorder of finger 128618006
Genetic disease 782964007
Congenital anomaly of digit 403855001
Absence of hand 249750006
Congenital anomaly of hand 34111000
Congenital absence of part of upper limb 449682004
Disorder of hand 118933004
Disorder of digit 128597007
Finding of finger 313133004
Partial congenital absence of limb 60220000
Congenital absence of upper limb 360526007
Finding of digit of hand 313132009
Absence of upper limb 449669007
Congenital anomaly of upper limb 66510004
Finding of hand region 116311003
Disorder of upper limb 118947000
Congenital anomaly of limb 60475009
Finding of upper limb 116307009
Congenital malformation 276654001
Disorder of limb 128605003
Finding of limb structure 302293008
Developmental disorder 5294002
Congenital disease 66091009
Disease 64572001
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

Disorder of digit 128597007

Congenital anomaly of digit 403855001

Adactyly 275348004

Ectrodactyly 81208006

Congenital cleft hand 13624003

Acrocardiofacial syndrome 890221004

SNOMED CT code