Epiphyseal dysplasia, microcephalus, nystagmus syndrome 721975004

SNOMED CT code

SNOMED code

721975004

name

Epiphyseal dysplasia, microcephalus, nystagmus syndrome

status

active

date introduced

2017-01-31

fully specified name(s)

Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)

synonyms

Epiphyseal dysplasia, microcephalus, nystagmus syndrome
Lowry Wood syndrome

attributes - group2

Pathological process

Pathological developmental process 308490002

Finding site

Structure of epiphysis 43719000

Occurrence

Congenital 255399007

Associated morphology

Dysplasia 25723000

attributes - group1

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Associated morphology

Congenital smallness 41086002

Finding site

Head structure 69536005

attributes - group3

Clinical course

Progressive 255314001

attributes - group4

Interprets

Height / growth measure 271603002

Has interpretation

Below reference range 281300000

attributes - group5

Has interpretation

Below reference range 281300000

Interprets

Birth head circumference 169876006

parents

Congenital microcephaly 1148758003
Multiple epiphyseal dysplasia 59708000
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Body measurement finding 365605003
Finding of head circumference 301338002
Microcephaly 1148757008
Congenital microcephaly 1148758003
Epiphyseal dysplasia, microcephalus, nystagmus syndrome 721975004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Chronic disease 27624003
Chronic disease of musculoskeletal system 128237006
Epiphyseal dysplasia 254080004
Multiple epiphyseal dysplasia 59708000
Epiphyseal dysplasia, microcephalus, nystagmus syndrome 721975004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Epiphyseal dysplasia, microcephalus, nystagmus syndrome 721975004

ancestors

sorted most to least specific

Congenital microcephaly 1148758003
Multiple epiphyseal dysplasia 59708000
Autosomal recessive hereditary disorder 85995004
Microcephaly 1148757008
Epiphyseal dysplasia 254080004
Autosomal hereditary disorder 1899006
Congenital anomaly of head 87290003
Spondyloepiphyseal dysplasia tarda 51952004
Finding of head circumference 301338002
Disorder of head 118934005
Osteochondrodysplasia syndrome 105985007
Chronic disease of musculoskeletal system 128237006
Disorder of epiphysis 240172008
Spondyloepimetaphyseal disorder 254062008
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Head finding 406122000
Multiple system malformation syndrome 82354003
Chronic disease 27624003
Metaphyseal chondrodysplasia 28681006
Hereditary disorder by system 363137000
Skeletal dysplasia 105986008
Hereditary disease 32895009
Finding of head and neck region 118254002
Congenital anomaly of skeletal bone 8447006
Congenital malformation syndromes associated with short stature 205808005
Congenital anomaly of musculoskeletal system 73573004
Genetic disease 782964007
Congenital malformation syndrome 400038003
Disorder of bone development 371521007
Short stature disorder 237836003
Congenital malformation 276654001
Disorder of bone 76069003
Disorder of stature 237834000
Developmental disorder 5294002
Bone finding 118953000
Disorder of skeletal system 88230002
Congenital disease 66091009
General finding of height 248327008
Finding of general physiological development 271616002
Disorder of musculoskeletal system 928000
Height / growth finding 365714001
Body measurement finding 365605003
Musculoskeletal finding 106028002
Disorder of body system 362965005
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Body measurement finding 365605003

Finding of head circumference 301338002

Microcephaly 1148757008

Congenital microcephaly 1148758003

Epiphyseal dysplasia, microcephalus, nystagmus syndrome 721975004

SNOMED CT code