Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome 1237618009
SNOMED CT code
| SNOMED code | 1237618009 |
|---|---|
| name | Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome |
| status | active |
| date introduced | 2022-09-30 |
| fully specified name(s) | Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) |
| synonyms |
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| attributes - group6 | |
| Interprets | White blood cell test 252305002 |
| attributes - group7 | |
| Interprets | Genetic test 405824009 |
| attributes - group5 | |
| Interprets | Body height measure 50373000 |
| Has interpretation | Below reference range 281300000 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Optic nerve structure 18234004 |
| Associated morphology | Atrophy 13331008 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Limb structure 66019005 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Finding site | Leukocyte 52501007 |
| Pathological process | Abnormal immune process 769247005 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Hereditary degenerative disease of central nervous system 106018006 Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome 1237618009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Congenital anomaly of limb 60475009 Multiple malformation syndrome with facial-limb defects as major feature 23359005 Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome 1237618009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome 1237618009 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Inherited optic neuropathy 312942003 Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome 1237618009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome 1237618009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of immune structure 414030009 Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome 1237618009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of blood, lymphatics and immune system 299691001 Disorder of cellular component of blood 414022008 White blood cell disorder 54097007 Hereditary white blood cell disorder 414395005 Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome 1237618009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital atrophy of optic nerve 722990003 Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome 1237618009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of blood, lymphatics and immune system 299691001 Disorder of cellular component of blood 414022008 White blood cell disorder 54097007 Non-malignant white cell disorder 234414004 Pelger-Huët anomaly 85559002 Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome 1237618009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome 1237618009 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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