Autosomal recessive ichthyosis   402772005

SNOMED CT code


SNOMED code402772005
nameAutosomal recessive ichthyosis
statusactive
date introduced2003-07-31
fully specified name(s)Autosomal recessive ichthyosis (disorder)
synonymsAutosomal recessive ichthyosis
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyHyperkeratosis   26996000
Finding siteEntire skin   181469002
OccurrenceCongenital   255399007
attributes - group2
Has interpretationAbnormal   263654008
InterpretsKeratinization   44138005
parents
  • Congenital ichthyosis of skin   13059002
  • Autosomal recessive hereditary disorder   85995004
children
  • Autosomal recessive epidermolytic ichthyosis   890235002
  • Autosomal recessive exfoliative ichthyosis   763768001
  • Autosomal recessive keratitis-ichthyosis-deafness syndrome   403780007
  • Bathing suit ichthyosis   725588002
  • CEDNIK syndrome   722385008
  • Congenital cataract ichthyosis syndrome   732952003
  • Congenital ichthyosis with hypotrichosis syndrome   724277002
  • Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome   1208936008
  • Harlequin ichthyosis   205548006
  • Hereditary skin peeling syndrome   724838009
  • Ichthyosis linearis circumflexa   54336006
  • Ichthyosis prematurity syndrome   763401009
  • Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome   763404001
  • Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome   733097003
  • Ichthyosis, oral and digital anomalies syndrome   732950006
  • Ichthyosis, short stature, brachydactyly, microspherophakia syndrome   783551005
  • Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome   763775000
  • MEDNIK syndrome   722035007
  • Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome   724278007
  • Neu-Laxova syndrome   77817004
  • Self-healing collodion baby   718632004
hierarchies
a selection of possible paths
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

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Autosomal recessive ichthyosis   402772005

ancestors
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