MACS syndrome 723367005

SNOMED CT code

SNOMED code

723367005

name

MACS syndrome

status

active

date introduced

2017-07-31

fully specified name(s)

Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)

synonyms

Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
MACS syndrome
MACS (macrocephaly, alopecia, cutis laxa, scoliosis) syndrome
RIN2 deficiency
Tall forehead, sparse hair, skin hyperextensibility, scoliosis syndrome

attributes - group1

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Finding site

Connective tissue structure 21793004

attributes - group2

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Skin structure 39937001

parents

Congenital anomaly of skin 199879009
Cutis laxa, autosomal recessive 59451000
Multiple system malformation syndrome 82354003

hierarchies

a selection of possible paths

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
MACS syndrome 723367005

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
MACS syndrome 723367005

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Congenital malformation 276654001
Congenital malformation syndrome 400038003
Multiple system malformation syndrome 82354003
MACS syndrome 723367005

ancestors

sorted most to least specific

Congenital anomaly of skin 199879009
Cutis laxa, autosomal recessive 59451000
Multiple system malformation syndrome 82354003
Congenital anomaly of integument 38164009
Inherited cutis laxa 254220005
Congenital malformation syndrome 400038003
Autosomal recessive hereditary disorder 85995004
Congenital connective tissue disorder 363039000
Congenital malformation 276654001
Autosomal hereditary disorder 1899006
Connective tissue hereditary disorder 363045008
Developmental hereditary disorder 363070008
Hereditary disorder of the integument 363185004
Cutis laxa 58588007
Developmental disorder 5294002
Collagen and elastic tissue disorders affecting skin 238846003
Congenital disease 66091009
Hereditary disorder by system 363137000
Metabolic disease of collagen 73873008
Disorder of connective tissue 105969002
Disorder of skin 95320005
Hereditary disease 32895009
Metabolic disease 75934005
Skin finding 106076001
Genetic disease 782964007
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

Integumentary system finding 106077005

Disorder of integument 128598002

Congenital anomaly of integument 38164009

Congenital anomaly of skin 199879009

MACS syndrome 723367005

SNOMED CT code