Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 784349004

SNOMED CT code

SNOMED code

784349004

name

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

status

active

date introduced

2019-07-31

fully specified name(s)

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)

synonyms

Urban Rifkin Davis syndrome
Autosomal recessive cutis laxa type 1C
ARCL1C - autosomal recessive cutis laxa type 1C
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

attributes - group2

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Finding site

Skin structure 39937001

attributes - group1

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Connective tissue structure 21793004

parents

Cutis laxa, autosomal recessive 59451000

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of connective tissue 105969002
Congenital connective tissue disorder 363039000
Inherited cutis laxa 254220005
Cutis laxa, autosomal recessive 59451000
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 784349004

ancestors

sorted most to least specific

Cutis laxa, autosomal recessive 59451000
Inherited cutis laxa 254220005
Autosomal recessive hereditary disorder 85995004
Congenital connective tissue disorder 363039000
Autosomal hereditary disorder 1899006
Connective tissue hereditary disorder 363045008
Developmental hereditary disorder 363070008
Hereditary disorder of the integument 363185004
Cutis laxa 58588007
Collagen and elastic tissue disorders affecting skin 238846003
Congenital disease 66091009
Developmental disorder 5294002
Hereditary disorder by system 363137000
Metabolic disease of collagen 73873008
Disorder of connective tissue 105969002
Hereditary disease 32895009
Disorder of skin 95320005
Metabolic disease 75934005
Genetic disease 782964007
Skin finding 106076001
Disorder of skin and/or subcutaneous tissue 80659006
Disorder of integument 128598002
Skin AND/OR mucosa finding 415531008
Disorder of soft tissue 19660004
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

Disease 64572001

Disorder of connective tissue 105969002

Congenital connective tissue disorder 363039000

Inherited cutis laxa 254220005

Cutis laxa, autosomal recessive 59451000

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 784349004

SNOMED CT code