Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies   1208985003

SNOMED CT code


SNOMED code1208985003
nameLinear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
statusactive
date introduced2022-03-31
fully specified name(s)Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder)
synonyms
  • Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
  • RHOA (ras homolog family member A) related mosaic ectodermal dysplasia
  • RHOA-related mosaic ectodermal dysplasia
attributes - group1
OccurrenceCongenital   255399007
Finding siteEctoderm structure   63206006
Associated morphologyDysplasia   25723000
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteTooth structure   38199008
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group3
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group4
OccurrenceCongenital   255399007
Finding siteHair structure   386045008
Associated morphologyHypoplasia   55199003
Pathological processPathological developmental process   308490002
attributes - group5
OccurrenceCongenital   255399007
Finding siteSkin structure   39937001
Associated morphologyHypopigmentation   89031001
Pathological processPathological developmental process   308490002
attributes - group6
OccurrenceCongenital   255399007
Finding siteLimb structure   66019005
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
parents
  • Congenital deficiency of pigment of skin   1953005
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Ectodermal dysplasia with hair-tooth defects   239027006
  • Congenital hypotrichia   56558005
  • Genetic disorder of skin pigmentation   724839001
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of pigmentation   414032001
        Disorder of skin pigmentation   46690002
          Skin hypopigmented   23006000
            Congenital deficiency of pigment of skin   1953005
              Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies   1208985003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Multiple malformation syndrome with facial-limb defects as major feature   23359005
            Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies   1208985003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of embryonic structure   609521009
        Congenital ectodermal defect   254154003
          Ectodermal dysplasia   8654005
            Ectodermal dysplasia with hair-tooth defects   239027006
              Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies   1208985003

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
                Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies   1208985003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic disorder of skin pigmentation   724839001
          Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies   1208985003

ancestors
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