Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome 724278007

SNOMED CT code

SNOMED code

724278007

name

Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome

status

active

date introduced

2017-07-31

fully specified name(s)

Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)

synonyms

Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
Ichthyosis, hypotrichosis, sclerosing cholangitis syndrome
NISCH (neonatal ichthyosis, sclerosing cholangitis, hypotrichosis) syndrome
NISCH syndrome

attributes - group3

Pathological process

Pathological developmental process 308490002

Associated morphology

Hyperkeratosis 26996000

Finding site

Entire skin 181469002

Occurrence

Congenital 255399007

attributes - group2

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Finding site

Hair structure 386045008

Associated morphology

Hypoplasia 55199003

attributes - group1

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Finding site

Biliary tract structure 34707002

Associated morphology

Inflammatory morphology 409774005

attributes - group4

Interprets

Keratinization 44138005

Has interpretation

Abnormal 263654008

attributes - group5

Associated morphology

Sclerosing inflammation 79108005

Finding site

Biliary tract structure 34707002

parents

Sclerosing cholangitis 235917005
Digestive system hereditary disorder 363080007
Autosomal recessive ichthyosis 402772005
Congenital hypotrichia 56558005
Congenital anomaly of biliary tract 897541006

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Digestive system finding 386617003
Finding of biliary tract 300339003
Disorder of biliary tract 105997008
Cholangitis 82403002
Sclerosing cholangitis 235917005
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome 724278007

SNOMED CT Concept 138875005
Clinical finding 404684003
Digestive system finding 386617003
Disorder of digestive system 53619000
Digestive system hereditary disorder 363080007
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome 724278007

SNOMED CT Concept 138875005
Clinical finding 404684003
Integumentary system finding 106077005
Skin finding 106076001
Rough skin 816995008
Congenital ichthyosis of skin 13059002
Autosomal recessive ichthyosis 402772005
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome 724278007

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
Congenital hypotrichia 56558005
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome 724278007

SNOMED CT Concept 138875005
Clinical finding 404684003
Digestive system finding 386617003
Finding of biliary tract 300339003
Disorder of biliary tract 105997008
Congenital anomaly of biliary tract 897541006
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome 724278007

ancestors

sorted most to least specific

Sclerosing cholangitis 235917005
Digestive system hereditary disorder 363080007
Autosomal recessive ichthyosis 402772005
Congenital hypotrichia 56558005
Congenital anomaly of biliary tract 897541006
Cholangitis 82403002
Congenital ichthyosis of skin 13059002
Hypotrichosis 53602002
Autosomal recessive hereditary disorder 85995004
Congenital anomaly of hair 65033000
Congenital abnormality of liver and/or biliary tract 268213006
Disorder of biliary tract 105997008
Genodermatosis 239001006
Disorder of hair growth 267808001
Inflammation of specific body organs 363169009
Inflammatory disorder of digestive system 373407002
Autosomal hereditary disorder 1899006
Inherited disorder of keratinization 254214009
Developmental hereditary disorder 363070008
Ichthyosis 782957005
Rough skin 816995008
Congenital anomaly of digestive organ 128332003
Congenital anomaly of abdomen 363024001
Disorder of liver and/or biliary tract 1290917001
Congenital anomaly of skin 199879009
Disorder of hair 279425004
Inflammation of specific body systems 363171009
Finding of biliary tract 300339003
Disorder of keratinization 277905003
Keratoderma 707209001
Congenital anomaly of digestive system 69518005
Hereditary disorder of the integument 363185004
Congenital anomaly of lower trunk 363030001
Disorder of abdomen 118948005
Hereditary disorder by system 363137000
Congenital anomaly of integument 38164009
Disorder of skin appendage 238714008
Inflammation of specific body structures or tissue 363170005
Disorder of digestive organ 76712006
Keratosis 254666005
Hair finding 247522004
Abnormal keratinization 69707008
Congenital abnormality of lower limb and pelvic girdle 253937004
Congenital anomaly of trunk 78626001
Finding of abdomen 609624008
Hereditary disease 32895009
Disorder of skin 95320005
Inflammatory disorder 128139000
Disorder of digestive system 53619000
Disorder of abdominopelvic segment of trunk 822988000
Congenital malformation 276654001
Functional finding 118228005
Finding of abdominopelvic segment of trunk 822987005
Genetic disease 782964007
Skin finding 106076001
Digestive system finding 386617003
Disorder of trunk 128121009
Developmental disorder 5294002
Disorder of skin and/or subcutaneous tissue 80659006
Congenital disease 66091009
Finding of trunk structure 302292003
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

Digestive system finding 386617003

Finding of biliary tract 300339003

Disorder of biliary tract 105997008

Cholangitis 82403002

Sclerosing cholangitis 235917005

Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome 724278007

SNOMED CT code