Tetraamelia with multiple malformation syndrome 716249009

SNOMED CT code

SNOMED code

716249009

name

Tetraamelia with multiple malformation syndrome

status

active

date introduced

2016-07-31

fully specified name(s)

Tetraamelia with multiple malformation syndrome (disorder)

synonyms

Tetraamelia with multiple malformation syndrome
Zimmer phocomelia
Tetra-amelia with multiple malformation syndrome

attributes - group1

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Entire left upper extremity 362729008

Associated morphology

Agenesis 782173000

attributes - group2

Pathological process

Pathological developmental process 308490002

Finding site

Entire right upper extremity 362728000

Associated morphology

Agenesis 782173000

Occurrence

Congenital 255399007

attributes - group4

Occurrence

Congenital 255399007

Finding site

Entire right lower extremity 362784000

Pathological process

Pathological developmental process 308490002

Associated morphology

Agenesis 782173000

attributes - group3

Finding site

Entire left lower extremity 362785004

Pathological process

Pathological developmental process 308490002

Associated morphology

Agenesis 782173000

Occurrence

Congenital 255399007

parents

Developmental hereditary disorder 363070008
Multiple system malformation syndrome 82354003
Congenital complete absence of bilateral lower limbs 890222006
Congenital complete absence of bilateral upper limbs 890223001

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Tetraamelia with multiple malformation syndrome 716249009

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Congenital malformation 276654001
Congenital malformation syndrome 400038003
Multiple system malformation syndrome 82354003
Tetraamelia with multiple malformation syndrome 716249009

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of limb structure 302293008
Finding of lower limb 116312005
Absence of lower limb 723722000
Congenital absence of right lower limb 15669321000119104
Congenital complete absence of right lower limb 1201776003
Congenital complete absence of bilateral lower limbs 890222006
Tetraamelia with multiple malformation syndrome 716249009

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of limb structure 302293008
Finding of upper limb 116307009
Disorder of upper limb 118947000
Disorder of right upper extremity 451401000124107
Congenital anomaly of right upper limb 1230356004
Bilateral congenital anomaly of upper limbs 1230355000
Congenital complete absence of bilateral upper limbs 890223001
Tetraamelia with multiple malformation syndrome 716249009

ancestors

sorted most to least specific

Developmental hereditary disorder 363070008
Multiple system malformation syndrome 82354003
Congenital complete absence of bilateral lower limbs 890222006
Congenital complete absence of bilateral upper limbs 890223001
Hereditary disease 32895009
Congenital malformation syndrome 400038003
Congenital complete absence of right lower limb 1201776003
Bilateral congenital anomaly of upper limbs 1230355000
Congenital complete absence of left lower limb 1201777007
Congenital complete absence of left upper limb 1258935001
Congenital complete absence of right upper limb 1258936000
Genetic disease 782964007
Congenital absence of right lower limb 15669321000119104
Congenital absence of left lower limb 15669241000119104
Congenital complete absence of lower limb 265798000
Congenital absence of left upper limb 15669521000119108
Congenital absence of right upper limb 15669561000119103
Congenital complete absence of upper limb 205306000
Congenital anomaly of right lower limb 1231289006
Congenital anomaly of right upper limb 1230356004
Congenital anomaly of left lower limb 1231288003
Congenital complete absence of limb 62588002
Absence of lower limb 723722000
Congenital anomaly of left upper limb 1230357008
Congenital absence of upper limb 360526007
Disorder of right lower extremity 451421000124102
Disorder of right upper extremity 451401000124107
Disorder of left lower extremity 451431000124104
Congenital anomaly of lower limb 84773003
Disorder of left upper extremity 451411000124105
Congenital anomaly of upper limb 66510004
Absence of upper limb 449669007
Disorder of lower limb 118937003
Disorder of upper limb 118947000
Congenital anomaly of limb 60475009
Congenital abnormality of lower limb and pelvic girdle 253937004
Congenital malformation 276654001
Finding of lower limb 116312005
Finding of upper limb 116307009
Disorder of limb 128605003
Developmental disorder 5294002
Finding of limb structure 302293008
Congenital disease 66091009
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

Tetraamelia with multiple malformation syndrome 716249009

SNOMED CT code