SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Genetic disease  782964007

Hereditary disease  32895009

Autosomal hereditary disorder  1899006

Autosomal dominant hereditary disorder  11164009

Aase syndrome   71988008

SNOMED CT code


SNOMED code71988008
nameAase syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Aase syndrome (disorder)
synonyms
  • Aase syndrome
  • Blackfan-Diamond anemia
  • Blackfan-Diamond anaemia
  • Aase Smith II syndrome
  • Congenital hypoplastic anaemia Blackfan-Diamond type
  • Congenital pure red cell aplasia
  • Congenital hypoplastic anemia Blackfan-Diamond type
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyHypoplasia   55199003
Finding siteBone marrow structure   14016003
OccurrenceCongenital   255399007
attributes - group2
InterpretsRed blood cell count   14089001
Has interpretationBelow reference range   281300000
attributes - group3
InterpretsMeasurement of total hemoglobin concentration   441689006
Has interpretationBelow reference range   281300000
attributes - group4
Due toDecreased erythrocyte production   18469004
parents
  • Autosomal dominant hereditary disorder   11164009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of cellular element of blood   414393003
  • Hereditary cancer-predisposing syndrome   699346009
  • Congenital hypoplastic anemia   88854002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Aase syndrome   71988008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Aase syndrome   71988008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of blood, lymphatics and immune system   299691001
      Disorder of cellular component of blood   414022008
        Hereditary disorder of cellular element of blood   414393003
          Aase syndrome   71988008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Hereditary cancer-predisposing syndrome   699346009
            Aase syndrome   71988008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital anemia   63565007
          Congenital hypoplastic anemia   88854002
            Aase syndrome   71988008

ancestors
sorted most to least specific
cpt crosswalks

Rules-based maps relating CPT® codes to and from SNOMED CT® clinical concepts.  Forward and backward mapping allows for easy transition between code sets. Map-A-Code crosswalk tool easily crosswalks multiple codes between the code sets.

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