Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome 1295488006

SNOMED CT code

SNOMED code

1295488006

name

Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome

status

active

date introduced

2023-12-01

fully specified name(s)

Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome (disorder)

synonyms

Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome
Disorder due to pyrroline-5-carboxylate reductase 1 deficiency
PYCR1-related de Barsy syndrome
Autosomal recessive cutis laxa type IIIb

attributes - group8

Finding site

Joint structure 39352004

attributes - group5

Interprets

Intellectual ability 247573007

Has interpretation

Impaired 260379002

attributes - group6

Interprets

Adaptation behavior 406208005

Has interpretation

Impaired 260379002

attributes - group7

Interprets

Reflex 87572000

Has interpretation

Abnormal 263654008

attributes - group1

Occurrence

Congenital 255399007

Finding site

Corneal structure 28726007

Associated morphology

Opacity 128305008

Pathological process

Pathological developmental process 308490002

attributes - group2

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

attributes - group3

Occurrence

Congenital 255399007

Finding site

Connective tissue structure 21793004

Pathological process

Pathological developmental process 308490002

attributes - group4

Occurrence

Congenital 255399007

Finding site

Skin structure 39937001

Pathological process

Pathological developmental process 308490002

attributes - group9

Due to

Deficiency of pyrroline-5-carboxylate reductase 124177001

parents

Arthropathy associated with another disorder 35524003
de Barsey syndrome 59252009

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Musculoskeletal finding 106028002
Joint finding 118952005
Arthropathy 399269003
Arthropathy associated with another disorder 35524003
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome 1295488006

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of coordination 298314008
Athetoid movement 58593005
de Barsey syndrome 59252009
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome 1295488006

ancestors

sorted most to least specific

Arthropathy associated with another disorder 35524003
de Barsey syndrome 59252009
Arthropathy 399269003
Intellectual disability 110359009
Developmental delay 248290002
Congenital corneal opacity 268160006
Joint laxity 298203008
Musculoskeletal and connective tissue disorder 312225001
Hereditary disorder of musculoskeletal system 363212003
Hereditary disorder of the visual system 363343008
Disorder of proline AND/OR hydroxyproline metabolism 37800003
Athetoid movement 58593005
Cutis laxa, autosomal recessive 59451000
Multiple malformation syndrome with facial defects as major feature 65094009
Hyperreflexia 86854008
Joint finding 118952005
Intellectual ability - finding 365814006
Disorder of joint region 785875003
Disorder of skeletal system 88230002
Congenital anomaly of cornea 128352002
Disorder of amino acid and organic acid metabolism 237911005
Finding of coordination 298314008
Inherited cutis laxa 254220005
Congenital anomaly of face 398302004
Abnormal reflex 46670006
Impaired cognition 386806002
Neurodevelopmental disorder 700364009
Behavior finding 844005
Corneal opacity 64634000
Autosomal recessive hereditary disorder 85995004
Multiple system malformation syndrome 82354003
Intelligence finding 106137004
Disorder of musculoskeletal system 928000
Disorder of amino acid metabolism 44779003
Congenital connective tissue disorder 363039000
Disorder of face 118930001
Reflex finding 106146005
Cognitive function finding 373930000
Mental state, behavior and/or psychosocial function finding 384821006
Corneal degeneration 111521006
Congenital anomaly of anterior segment of eye 429448005
Autosomal hereditary disorder 1899006
Connective tissue hereditary disorder 363045008
Developmental hereditary disorder 363070008
Hereditary disorder of the integument 363185004
Cutis laxa 58588007
Congenital malformation syndrome 400038003
Lesion of cornea 63725005
Musculoskeletal finding 106028002
Functional finding 118228005
Disorder of cornea 15250008
Hereditary disorder by system 363137000
Disorder of organic acid metabolism 116021002
Neurological finding 102957003
Collagen and elastic tissue disorders affecting skin 238846003
Finding of face 301310005
Degenerative disorder of eye 62585004
Congenital anomaly of eye 19416009
Metabolic disease of collagen 73873008
Lesion of eye 301905003
Disorder of anterior segment of eye 128535002
Disorder of connective tissue 105969002
Hereditary disease 32895009
Metabolic disease 75934005
Corneal finding 246924004
Disorder of skin 95320005
Congenital anomaly of head 87290003
Anomaly of eye 11131000119108
Degenerative disorder 362975008
Congenital anomaly of visual system 127329003
Disorder of eye 371405004
Genetic disease 782964007
Anterior segment finding 418727003
Skin finding 106076001
Congenital malformation 276654001
Disorder of skin and/or subcutaneous tissue 80659006
Developmental disorder 5294002
Disorder of sensory organ 1279550006
Globe finding 246915008
Disorder of eye region 371409005
Disorder of integument 128598002
Congenital disease 66091009
Skin AND/OR mucosa finding 415531008
Disorder of soft tissue 19660004
Visual system disorder 128127008
Disorder of head 118934005
Integumentary system finding 106077005
Finding of head region 298364001
General finding of soft tissue 248402002
Eye / vision finding 118235002
Head finding 406122000
Disorder of body system 362965005
Disease 64572001
Finding of head and neck region 118254002
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Musculoskeletal finding 106028002

Joint finding 118952005

Arthropathy 399269003

Arthropathy associated with another disorder 35524003

Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome 1295488006

SNOMED CT code