Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome 403781006

SNOMED CT code

SNOMED code

403781006

name

Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome

status

active

date introduced

2003-07-31

fully specified name(s)

Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome (disorder)

synonyms

PIBIDS syndrome, photosensitivity with IBIDS
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome

attributes - group2

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Hair shaft structure 37111008

Occurrence

Congenital 255399007

attributes - group1

Pathological process

Pathological developmental process 308490002

Associated morphology

Dysplasia 25723000

Occurrence

Congenital 255399007

Finding site

Ectoderm structure 63206006

parents

Trichothiodystrophy 723551003

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Integumentary system finding 106077005
Disorder of integument 128598002
Hereditary disorder of the integument 363185004
Trichothiodystrophy 723551003
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome 403781006

ancestors

sorted most to least specific

Trichothiodystrophy 723551003
Developmental hereditary disorder 363070008
Hereditary disorder of the integument 363185004
Genetic defect of hair shaft 402774006
Congenital anomaly of hair 65033000
Autosomal recessive hereditary disorder 85995004
Ectodermal dysplasia 8654005
Disorder of hair shaft 267811000
Autosomal hereditary disorder 1899006
Genodermatosis 239001006
Hereditary disorder by system 363137000
Congenital ectodermal defect 254154003
Hereditary disease 32895009
Disorder of hair 279425004
Congenital anomaly of skin 199879009
Disorder of embryonic structure 609521009
Genetic disease 782964007
Disorder of skin appendage 238714008
Congenital anomaly of integument 38164009
Hair finding 247522004
Disorder of skin 95320005
Congenital malformation 276654001
Skin finding 106076001
Developmental disorder 5294002
Disorder of skin and/or subcutaneous tissue 80659006
Congenital disease 66091009
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

Hereditary disorder of the integument 363185004

Trichothiodystrophy 723551003

Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome 403781006

SNOMED CT code