Autosomal recessive brachyolmia 783789002

SNOMED CT code

SNOMED code

783789002

name

Autosomal recessive brachyolmia

status

active

date introduced

2019-07-31

fully specified name(s)

Autosomal recessive brachyolmia (disorder)

synonyms

Autosomal recessive brachyolmia
Brachyolmia Hobaek/Toledo type

attributes - group1

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Associated morphology

Dysplasia 25723000

Finding site

Bone structure 272673000

attributes - group2

Interprets

Height / growth measure 271603002

parents

Brachyolmia 254088006
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Brachyolmia 254088006
Autosomal recessive brachyolmia 783789002

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 brachyolmia 783789002

ancestors

sorted most to least specific

Brachyolmia 254088006
Autosomal recessive hereditary disorder 85995004
Autosomal hereditary disorder 1899006
Congenital malformation syndromes associated with short stature 205808005
Spondylodysplastic group 278708009
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Short stature disorder 237836003
Skeletal dysplasia 105986008
Hereditary disorder by system 363137000
Congenital malformation syndrome 400038003
Congenital anomaly of skeletal bone 8447006
Hereditary disease 32895009
Disorder of stature 237834000
Congenital anomaly of musculoskeletal system 73573004
Disorder of bone development 371521007
Genetic disease 782964007
General finding of height 248327008
Congenital malformation 276654001
Finding of general physiological development 271616002
Disorder of bone 76069003
Height / growth finding 365714001
Developmental disorder 5294002
Disorder of skeletal system 88230002
Congenital disease 66091009
Bone finding 118953000
Body measurement finding 365605003
Disorder of musculoskeletal system 928000
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

Disease 64572001

Developmental disorder 5294002

Developmental hereditary disorder 363070008

Brachyolmia 254088006

Autosomal recessive brachyolmia 783789002

SNOMED CT code