SNOMED CT Concept  138875005

Clinical finding  404684003

Musculoskeletal finding  106028002

Disorder of musculoskeletal system  928000

Disorder of skeletal system  88230002

Skeletal dysplasia  105986008

NEK9-related lethal skeletal dysplasia   1179299005

SNOMED CT code


SNOMED code1179299005
nameNEK9-related lethal skeletal dysplasia
statusactive
date introduced2021-10-31
fully specified name(s)NIMA related kinase 9 lethal skeletal dysplasia (disorder)
synonyms
  • NEK9-related lethal skeletal dysplasia
  • NIMA related kinase 9 lethal skeletal dysplasia
  • Lethal skeletal dysplasia, foetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome
  • Lethal skeletal dysplasia, fetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome
attributes - group3
InterpretsRange of joint movement   364564000
Has interpretationDecreased   1250004
attributes - group1
OccurrenceCongenital   255399007
Finding siteSkeletal system structure   113192009
Associated morphologyDysplasia   25723000
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteStructure of joint region   785818007
Associated morphologyContracture   57048009
Pathological processPathological developmental process   308490002
parents
  • Skeletal dysplasia   105986008
  • Inherited arthrogryposis   28204005
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple system malformation syndrome   82354003
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          Skeletal dysplasia   105986008
            NEK9-related lethal skeletal dysplasia   1179299005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Inherited arthrogryposis   28204005
            NEK9-related lethal skeletal dysplasia   1179299005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          NEK9-related lethal skeletal dysplasia   1179299005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              NEK9-related lethal skeletal dysplasia   1179299005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              NEK9-related lethal skeletal dysplasia   1179299005

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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